A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.
Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.
A flavoprotein enzyme that catalyzes the univalent reduction of OXYGEN using NADPH as an electron donor to create SUPEROXIDE ANION. The enzyme is dependent on a variety of CYTOCHROMES. Defects in the production of superoxide ions by enzymes such as NADPH oxidase result in GRANULOMATOUS DISEASE, CHRONIC.
Colorless to yellow dye that is reducible to blue or black formazan crystals by certain cells; formerly used to distinguish between nonbacterial and bacterial diseases, the latter causing neutrophils to reduce the dye; used to confirm diagnosis of chronic granulomatous disease.
Cytochromes (electron-transporting proteins) with protoheme (HEME B) as the prosthetic group.
Granular leukocytes having a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.
A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents.
A group of oxidoreductases that act on NADH or NADPH. In general, enzymes using NADH or NADPH to reduce a substrate are classified according to the reverse reaction, in which NAD+ or NADP+ is formally regarded as an acceptor. This subclass includes only those enzymes in which some other redox carrier is the acceptor. (Enzyme Nomenclature, 1992, p100) EC 1.6.
An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.
A flavoprotein that reversibly oxidizes NADPH to NADP and a reduced acceptor. EC 1.6.99.1.
A large increase in oxygen uptake by neutrophils and most types of tissue macrophages through activation of an NADPH-cytochrome b-dependent oxidase that reduces oxygen to a superoxide. Individuals with an inherited defect in which the oxidase that reduces oxygen to superoxide is decreased or absent (GRANULOMATOUS DISEASE, CHRONIC) often die as a result of recurrent bacterial infections.
Cells that can carry out the process of PHAGOCYTOSIS.
Highly reactive compounds produced when oxygen is reduced by a single electron. In biological systems, they may be generated during the normal catalytic function of a number of enzymes and during the oxidation of hemoglobin to METHEMOGLOBIN. In living organisms, SUPEROXIDE DISMUTASE protects the cell from the deleterious effects of superoxides.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The engulfing and degradation of microorganisms; other cells that are dead, dying, or pathogenic; and foreign particles by phagocytic cells (PHAGOCYTES).
Infections with fungi of the genus ASPERGILLUS.
Sarcoidosis affecting predominantly the lungs, the site most frequently involved and most commonly causing morbidity and mortality in sarcoidosis. Pulmonary sarcoidosis is characterized by sharply circumscribed granulomas in the alveolar, bronchial, and vascular walls, composed of tightly packed cells derived from the mononuclear phagocyte system. The clinical symptoms when present are dyspnea upon exertion, nonproductive cough, and wheezing. (Cecil Textbook of Medicine, 19th ed, p431)
Infections with bacteria of the genus BURKHOLDERIA.
Inflammation of the lymph nodes.
The natural bactericidal property of BLOOD due to normally occurring antibacterial substances such as beta lysin, leukin, etc. This activity needs to be distinguished from the bactericidal activity contained in a patient's serum as a result of antimicrobial therapy, which is measured by a SERUM BACTERICIDAL TEST.
Glycoproteins found on the membrane or surface of cells.
Granulomatous disorders affecting one or more sites in the respiratory tract.
A family of gram-negative aerobic bacteria consisting of ellipsoidal to rod-shaped cells that occur singly, in pairs, or in chains.
An order of fungi in the phylum ASCOMYCOTA characterized by the presence of well defined peridia and cleistothecial asci. Notable anamorphs (mitosporic forms) of Eurotiales include PENICILLIUM and ASPERGILLUS.
Zymosan is a polysaccharide derived from the cell walls of Saccharomyces cerevisiae, commonly used in research as an immunostimulant to induce inflammation and study phagocytosis, complement activation, and oxidative burst in neutrophils and macrophages.
A species of BURKHOLDERIA considered to be an opportunistic human pathogen. It has been associated with various types of infections of nosocomial origin.
Pulmonary diseases caused by fungal infections, usually through hematogenous spread.
Chronic, localized granulomatous infection of mucocutaneous tissues, especially the NOSE, and characterized by HYPERPLASIA and the development of POLYPS. It is found in humans and other animals and is caused by the mesomycetozoean organism RHINOSPORIDIUM SEEBERI.
Techniques used for determining the values of photometric parameters of light resulting from LUMINESCENCE.
A granulomatous disease caused by KLEBSIELLA RHINOSCLEROMATIS infection. Despite its name, this disease is not limited to the nose and NASOPHARYNX but may affect any part of the RESPIRATORY TRACT, sometimes with extension to the lip and the skin.
Phosphoproteins are proteins that have been post-translationally modified with the addition of a phosphate group, usually on serine, threonine or tyrosine residues, which can play a role in their regulation, function, interaction with other molecules, and localization within the cell.
A species of imperfect fungi from which the antibiotic fumigatin is obtained. Its spores may cause respiratory infection in birds and mammals.
Leukocytes with abundant granules in the cytoplasm. They are divided into three groups according to the staining properties of the granules: neutrophilic, eosinophilic, and basophilic. Mature granulocytes are the NEUTROPHILS; EOSINOPHILS; and BASOPHILS.
Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994)
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
A triazole antifungal agent that inhibits cytochrome P-450-dependent enzymes required for ERGOSTEROL synthesis.
White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).
A genus of gram-negative, aerobic, rod-shaped bacteria. Organisms in this genus had originally been classified as members of the PSEUDOMONAS genus but overwhelming biochemical and chemical findings indicated the need to separate them from other Pseudomonas species, and hence, this new genus was created.
Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes.
A formylated tripeptide originally isolated from bacterial filtrates that is positively chemotactic to polymorphonuclear leucocytes, and causes them to release lysosomal enzymes and become metabolically activated.
A phorbol ester found in CROTON OIL with very effective tumor promoting activity. It stimulates the synthesis of both DNA and RNA.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A strong oxidizing agent used in aqueous solution as a ripening agent, bleach, and topical anti-infective. It is relatively unstable and solutions deteriorate over time unless stabilized by the addition of acetanilide or similar organic materials.
Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents.
Identification of genetic carriers for a given trait.
Genes that influence the PHENOTYPE only in the homozygous state.
A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.
Multiple erythrocytic antigens that comprise at least three pairs of alternates and amorphs, determined by one complex gene or possibly several genes at closely linked loci. The system is important in transfusion reactions. Its expression involves the X-chromosome.
5-Amino-2,3-dihydro-1,4-phthalazinedione. Substance that emits light on oxidation. It is used in chemical determinations.
Mycoses are a group of diseases caused by fungal pathogens that can infect various tissues and organs, potentially leading to localized or systemic symptoms, depending on the immune status of the host.
The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)
A species of imperfect fungi from which the antibiotic nidulin is obtained. Its teleomorph is Emericella nidulans.
A hemeprotein from leukocytes. Deficiency of this enzyme leads to a hereditary disorder coupled with disseminated moniliasis. It catalyzes the conversion of a donor and peroxide to an oxidized donor and water. EC 1.11.1.7.
Large, phagocytic mononuclear leukocytes produced in the vertebrate BONE MARROW and released into the BLOOD; contain a large, oval or somewhat indented nucleus surrounded by voluminous cytoplasm and numerous organelles.
An enzyme of the oxidoreductase class that catalyzes the conversion of beta-D-glucose and oxygen to D-glucono-1,5-lactone and peroxide. It is a flavoprotein, highly specific for beta-D-glucose. The enzyme is produced by Penicillium notatum and other fungi and has antibacterial activity in the presence of glucose and oxygen. It is used to estimate glucose concentration in blood or urine samples through the formation of colored dyes by the hydrogen peroxide produced in the reaction. (From Enzyme Nomenclature, 1992) EC 1.1.3.4.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
A mitosporic fungal genus occasionally causing human diseases such as pulmonary infections, mycotic keratitis, endocarditis, and opportunistic infections. Its teleomorph is BYSSOCHLAMYS.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A mitosporic Onygenaceae fungal genus which causes adiaspiromycosis, a pulmonary mycosis of man and rodents. One of its teleomorphs is Ajellomyces.
Infections with bacteria of the genus NOCARDIA.
A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)

Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease. (1/600)

Chronic granulomatous disease (CGD) is a disorder of host defense due to genetic defects of the superoxide (O2-) generating NADPH oxidase in phagocytes. A membrane-bound cytochrome b558, a heterodimer consisting of gp91-phox and p22-phox, is a critical component of the oxidase. The X-linked form of the disease is due to defects in the gp91-phox gene. We report here biochemical and genetic analyses of patients with typical and atypical X-linked CGD. Immunoblots showed that neutrophils from one patient had small amounts of p22-phox and gp91-phox and a low level of O2- forming oxidase activity, in contrast to the complete absence of both subunits in two patients with typical CGD. Using polymerase chain reactions (PCR) on cDNA and genomic DNA, we found novel missense mutations of gp91-phox in the two typical patients and a point mutation in the variant CGD, a characteristic common to two other patients with similar variant CGD reported previously. Spectrophotometric analysis of the neutrophils from the variant patient provided evidence for the presence of heme of cytochrome b558. Recently, we reported another variant CGD with similar amounts of both subunits, but without oxidase activity or the heme spectrum. A predicted mutation at amino acid 101 in gp91-phox was also confirmed in this variant CGD by PCR of the genomic DNA. These results on four patients, including those with two variant CGD, are discussed with respect to the missense mutated sites and the heme binding ligands in gp91-phox.  (+info)

Activation of the neutrophil respiratory burst oxidase. (2/600)

The neutrophil respiratory burst oxidase is a multicomponent activatable enzyme comprising one of the major phagocyte antimicrobial systems. In the genetic disorder chronic granulomatous disease, absent oxidase function is associated with recurrent, severe, and often life-threatening infections. The components of the oxidase system include both membrane-bound and soluble cytosolic proteins. A primary feature of stimulus-dependent activation is the translocation of a complex of cytosolic factors to the membrane, where they associate with a flavocytochrome enzyme. Interactions among the various oxidase components occur through a number of specific regions, including SH3 domains and proline-rich motifs. The fully assembled complex functions as an electron transport system, moving electrons from cytosolic NADPH to molecular oxygen to form superoxide, which, along with subsequent reactive products, exerts microbicidal and cytotoxic activities.  (+info)

Progress in gene therapy for chronic granulomatous disease. (3/600)

Progress in development of gene therapy for chronic granulomatous disease (CGD), an inherited defect in leukocyte oxidase deficiency, is reviewed. The use of retrovirus vectors to transfer oxidase enzyme subunit cDNA sequence into hematopoietic progenitors results in correction of oxidase activity in neutrophils differentiating from transduced progenitors. In CGD mouse knockouts (X-linked gp91phox-deficient CGD and autosomal recessive p47phox-deficient CGD), gene therapy correction of the CGD defect resulted in appearance of oxidase-normal neutrophils in the peripheral blood and increased host resistance to challenge with fungi or bacteria. In a phase I clinical trial of ex vivo gene therapy of p47phox-deficient CGD, prolonged production (2-6 months) of a low number (1:5000) of oxidase-normal neutrophils was achieved. This therapy might prove beneficial in a setting of prolonged infection in CGD patients, in which even transient production of autologous gene-corrected neutrophils might augment host defense.  (+info)

The p47(phox-/-) mouse model of chronic granulomatous disease has normal granuloma formation and cytokine responses to Mycobacterium avium and Schistosoma mansoni eggs. (4/600)

Chronic granulomatous disease (CGD) is a genetic disorder of NADPH oxidase in which phagocytes are defective in generating reactive oxidants. CGD patients suffer from recurrent infections and exuberant and persistent tissue granuloma formation. We hypothesized that abnormal granulomata in CGD may result from aberrant T-cell-mediated cytokine responses. To assess Th-1-type cytokine responses and granulomata, we challenged p47(phox-/-) and wild-type mice with avirulent (SmD) or virulent (SmT) variants of Mycobacterium avium 2-151. To assess Th-2-type cytokine responses and granulomata, we used Schistosoma mansoni eggs (SME). Mononuclear cells were harvested, and cytokine responses were determined by enzyme-linked immunosorbent assay or reverse transcriptase PCR. Following SmD or SmT challenge, splenocytes from p47(phox-/-) and wild-type mice generated similar polar Th-1 responses (increased levels of gamma interferon and basal levels of interleukin 4 [IL-4] and IL-5). By 8 weeks after SmT challenge, exuberant splenic granulomata developed in p47(phox-/-) and wild-type mice. After SME challenge, thoracic lymph node mononuclear cells from p47(phox-/-) and wild-type mice generated similar mixed Th-1 and Th-2 cytokine responses to SME antigen and concanavalin A. Peak lung granuloma sizes and rates of regression were similar in p47(phox-/-) and wild-type mice. These results suggest that exuberant granulomatous inflammation in CGD is probably not the result of skewing of T-cell responses toward the Th-1 or Th-2 pole. Appropriate regression of established tissue granulomata in p47(phox-/-) mice challenged with SME suggests that abnormal granuloma formation in CGD is stimulus dependent and is not an invariant feature of the disease.  (+info)

Gamma interferon treatment of patients with chronic granulomatous disease is associated with augmented production of nitric oxide by polymorphonuclear neutrophils. (5/600)

Treatment with gamma-interferon (IFN-gamma) is associated with reduced frequency and severity of infections in chronic granulomatous disease (CGD), but the mechanism is unknown. Since the inducible nitric oxide (NO) synthase can be amplified by IFN-gamma in murine macrophages, for example, we hypothesized that IFN-gamma might modulate NO release from polymorphonuclear neutrophils (PMNs) in patients with CGD. Eight patients with CGD and eight healthy controls were studied. Each patient was given either 50 or 100 microg of IFN-gamma per m2 on two consecutive days. The production of NO from N-formyl-methionyl-leucyl-phenylalanine (fMLP)-stimulated PMNs was assessed as the NG-monomethyl-L-arginine-inhibitable oxidation of oxyhemoglobin to methemoglobin in the presence of catalase and superoxide dismutase. Prior to IFN-gamma treatment, the PMNs from CGD patients produced 372 +/- 27 (mean +/- standard error of the mean) pmol of NO/10(6) PMNs at 45 min, while the control PMNs produced 343 +/- 44 pmol. On day 1 after IFN-gamma treatment, NO production increased to 132% +/- 25% of that for controls, and on day 3 it reached 360% +/- 37% (P < 0.001) of that for controls. On day 8, the values still remained higher, 280% +/- 78% more than the control values. Likewise, the bactericidal capacity of PMNs increased on day 3. The present data show that IFN-gamma treatment of CGD patients is associated with an increased production of NO from PMNs when activated by fMLP. Since these PMNs lack the capacity to produce superoxide anions, it is conceivable that this increase in NO release could be instrumental in augmenting host defense.  (+info)

Elf-1 and PU.1 induce expression of gp91(phox) via a promoter element mutated in a subset of chronic granulomatous disease patients. (6/600)

The cytochrome b heavy chain (gp91(phox)) is the redox center of the NADPH-oxidase and is highly expressed in mature myeloid cells. Point mutations at -57, -55, -53, and -52 bp of the gp91(phox) promoter have been detected in patients with chronic granulomatous disease (CGD; Newburger et al, J Clin Invest 94:1205, 1994; and Suzuki et al, Proc Natl Acad Sci USA 95:6085, 1998). We report that Elf-1 and PU. 1, ets family members highly expressed in myeloid cells, bind to this promoter element. Either factor trans-activates the -102 to +12 bp gp91(phox) promoter when overexpressed in nonhematopoietic HeLa cells or the PLB985 myeloid cell line. However, no synergy of gp91(phox) promoter activation occurs when both Elf-1 and PU.1 are overexpressed. Introduction of the -57 bp or -55 bp CGD mutations into the gp91(phox) promoter significantly reduces the binding affinity of Elf-1 and PU.1 and also reduces the ability of these factors to trans-activate the promoter. These results indicate that Elf-1 and PU.1 contribute to directing the lineage-restricted expression of the gp91(phox) gene in phagocytes and that failure of these factors to effectively interact with this promoter results in CGD.  (+info)

Transient association of the nicotinamide adenine dinucleotide phosphate oxidase subunits p47phox and p67phox with phagosomes in neutrophils from patients with X-linked chronic granulomatous disease. (7/600)

Optimal microbicidal activity of polymorphonuclear leukocytes (PMNs) requires recruitment of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase to the phagosome. In this study, we used a synchronized phagocytosis assay and immunofluorescence microscopy (IFM) to examine the association of cytosolic NADPH oxidase subunits with phagosomes containing opsonized zymosan (OpZ). Ingestion of OpZ began within 30 seconds of particle binding and forming phagosomes were enriched for both F-actin and the actin-binding protein p57. NADPH oxidase subunits p47phox and p67phox were also recruited to forming phagosomes and were retained on mature phagosomes for at least 15 minutes. Colocalization of F-actin, p57, and p47phox on phagosomes was confirmed by immunoblotting. Translocation of p67phox, but not p57, to forming phagosomes was deficient in PMNs lacking p47phox. Surprisingly, we found that in PMNs from six individuals with X-linked chronic granulomatous disease (CGD), p47phox and p67phox accumulated in the periphagosomal area during ingestion of OpZ. However, in marked contrast to normal PMNs, p47phox and p67phox were shed from nascent phagosomes along with F-actin and p57 once OpZ was internalized (approximately 5 minutes). These data support a model in which flavocytochrome b is required for stable membrane binding of p47phox and p67phox, but not their association with the cytoskeleton or transport to the cell periphery.  (+info)

Aspergillus osteomyelitis in a child who has p67-phox-deficient chronic granulomatous disease. (8/600)

Here we describe Aspergillus osteomyelitis of the tibia in a 9-year-old boy who has an autosomal recessive form of chronic granulomatous disease (CGD). The patient showed a p67-phagocyte oxidase (phox) deficiency, which is rare type of CGD in Japan. The initial treatment which consisted of surgical debridement and antibiotic therapy with amphotericin B (AMPH), did not control the infection. Aspergillus fumigatus (A. fumigatus) pure isolated from drainage fluid and necrotic bone tissue demonstrated less susceptible to antifungal agents, including AMPH, fluconazole and flucytosine. Recombinant interferon gamma was then administrated, and it was effective in controlling the course of severe invasive aspergillosis. This report indicates the use of interferon gamma might be helpful in control for Aspergillus osteomyelitis of the tibia in a child with CGD demonstrated p67-phox deficiency refractory to conventional therapy with AMPH.  (+info)

A chronic granulomatous disease (CGD) is a group of rare inherited disorders that affect the body's ability to fight off certain types of bacterial and fungal infections. It is characterized by the formation of granulomas, which are abnormal masses or nodules composed of immune cells called macrophages that cluster together in an attempt to wall off and destroy the infectious agents.

In CGD, the macrophages have a genetic defect that prevents them from producing reactive oxygen species (ROS), which are molecules that help kill bacteria and fungi. As a result, the immune system is unable to effectively eliminate these pathogens, leading to chronic inflammation and the formation of granulomas.

CGD is typically diagnosed in childhood and can affect various organs and systems in the body, including the lungs, gastrointestinal tract, skin, and lymph nodes. Symptoms may include recurrent infections, fever, fatigue, weight loss, cough, diarrhea, and abdominal pain. Treatment typically involves antibiotics or antifungal medications to manage infections, as well as immunosuppressive therapy to control inflammation and prevent the formation of granulomas. In some cases, bone marrow transplantation may be considered as a curative treatment option.

Phagocyte bactericidal dysfunction refers to an impairment in the ability of certain types of immune cells, called phagocytes, to kill bacteria. Phagocytes, which include cells such as neutrophils and macrophages, play a critical role in the body's defense against infection by engulfing and destroying foreign invaders like bacteria.

Bactericidal dysfunction occurs when there is a problem with one or more of the bacterial killing mechanisms within the phagocyte. This can be due to genetic defects, acquired conditions, or medication side effects. As a result, the phagocytes are not able to effectively eliminate bacteria, leading to an increased risk of recurrent or chronic infections.

Examples of conditions associated with phagocyte bactericidal dysfunction include chronic granulomatous disease (CGD), leukocyte adhesion deficiency (LAD), and myeloperoxidase deficiency. These conditions are typically rare, but can have serious consequences if not properly diagnosed and managed.

NADPH oxidase is an enzyme complex that plays a crucial role in the production of reactive oxygen species (ROS) in various cell types. The primary function of NADPH oxidase is to catalyze the transfer of electrons from NADPH to molecular oxygen, resulting in the formation of superoxide radicals. This enzyme complex consists of several subunits, including two membrane-bound components (gp91phox and p22phox) and several cytosolic components (p47phox, p67phox, p40phox, and rac1 or rac2). Upon activation, these subunits assemble to form a functional enzyme complex that generates ROS, which serve as important signaling molecules in various cellular processes. However, excessive or uncontrolled production of ROS by NADPH oxidase has been implicated in the pathogenesis of several diseases, such as cardiovascular disorders, neurodegenerative diseases, and cancer.

Nitroblue Tetrazolium (NBT) is not a medical term per se, but a chemical compound that is widely used in scientific research and diagnostic tests. It's primarily used as an electron acceptor in various biochemical assays to detect the presence of certain enzymes or reactive oxygen species (ROS).

In a medical context, NBT is often used in the NBT reduction test, which is a diagnostic procedure to identify patients with chronic granulomatous disease (CGD), an inherited immunodeficiency disorder. In this test, white blood cells called phagocytes from the patient's blood sample are incubated with NBT and a stimulus that triggers their respiratory burst, such as bacterial particles. If the phagocytes can produce superoxide radicals during the respiratory burst, these radicals reduce NBT to form a blue-black insoluble formazan precipitate. In CGD patients, who have impaired production of ROS, there is no or significantly reduced formazan formation, indicating an abnormal NBT reduction test result.

Cytochrome b is a type of cytochrome, which is a class of proteins that contain heme as a cofactor and are involved in electron transfer. Cytochromes are classified based on the type of heme they contain and their absorption spectra.

The cytochrome b group includes several subfamilies of cytochromes, including cytochrome b5, cytochrome b2, and cytochrome bc1 (also known as complex III). These cytochromes are involved in various biological processes, such as fatty acid desaturation, steroid metabolism, and the electron transport chain.

The electron transport chain is a series of protein complexes in the inner mitochondrial membrane that generates most of the ATP (adenosine triphosphate) required for cellular energy production. Cytochrome bc1 is a key component of the electron transport chain, where it functions as a dimer and catalyzes the transfer of electrons from ubiquinol to cytochrome c while simultaneously pumping protons across the membrane. This creates an electrochemical gradient that drives ATP synthesis.

Deficiencies or mutations in cytochrome b genes can lead to various diseases, such as mitochondrial disorders and cancer.

Neutrophils are a type of white blood cell that are part of the immune system's response to infection. They are produced in the bone marrow and released into the bloodstream where they circulate and are able to move quickly to sites of infection or inflammation in the body. Neutrophils are capable of engulfing and destroying bacteria, viruses, and other foreign substances through a process called phagocytosis. They are also involved in the release of inflammatory mediators, which can contribute to tissue damage in some cases. Neutrophils are characterized by the presence of granules in their cytoplasm, which contain enzymes and other proteins that help them carry out their immune functions.

A granuloma is a small, nodular inflammatory lesion that occurs in various tissues in response to chronic infection, foreign body reaction, or autoimmune conditions. Histologically, it is characterized by the presence of epithelioid macrophages, which are specialized immune cells with enlarged nuclei and abundant cytoplasm, often arranged in a palisading pattern around a central area containing necrotic debris, microorganisms, or foreign material.

Granulomas can be found in various medical conditions such as tuberculosis, sarcoidosis, fungal infections, and certain autoimmune disorders like Crohn's disease. The formation of granulomas is a complex process involving both innate and adaptive immune responses, which aim to contain and eliminate the offending agent while minimizing tissue damage.

NADH, NADPH oxidoreductases are a class of enzymes that catalyze the redox reaction between NADH or NADPH and various electron acceptors. These enzymes play a crucial role in cellular metabolism by transferring electrons from NADH or NADPH to other molecules, which is essential for many biochemical reactions.

NADH (nicotinamide adenine dinucleotide hydrogen) and NADPH (nicotinamide adenine dinucleotide phosphate hydrogen) are coenzymes that act as electron carriers in redox reactions. They consist of a nicotinamide ring, which undergoes reduction or oxidation by accepting or donating electrons and a proton (H+).

NADH, NADPH oxidoreductases are classified based on their structure and mechanism of action. Some examples include:

1. Dehydrogenases: These enzymes catalyze the oxidation of NADH or NADPH to NAD+ or NADP+ while reducing an organic substrate. Examples include lactate dehydrogenase, alcohol dehydrogenase, and malate dehydrogenase.
2. Oxidases: These enzymes catalyze the oxidation of NADH or NADPH to NAD+ or NADP+ while reducing molecular oxygen (O2) to water (H2O). Examples include NADH oxidase and NADPH oxidase.
3. Reductases: These enzymes catalyze the reduction of various electron acceptors using NADH or NADPH as a source of electrons. Examples include glutathione reductase, thioredoxin reductase, and nitrate reductase.

Overall, NADH, NADPH oxidoreductases are essential for maintaining the redox balance in cells and play a critical role in various metabolic pathways, including energy production, detoxification, and biosynthesis.

Sarcoidosis is a multi-system disorder characterized by the formation of granulomas (small clumps of inflammatory cells) in various organs, most commonly the lungs and lymphatic system. These granulomas can impair the function of the affected organ(s), leading to a variety of symptoms. The exact cause of sarcoidosis is unknown, but it's thought to be an overactive immune response to an unknown antigen, possibly triggered by an infection, chemical exposure, or another environmental factor.

The diagnosis of sarcoidosis typically involves a combination of clinical evaluation, imaging studies (such as chest X-rays and CT scans), and laboratory tests (including blood tests and biopsies). While there is no cure for sarcoidosis, treatment may be necessary to manage symptoms and prevent complications. Corticosteroids are often used to suppress the immune system and reduce inflammation, while other medications may be prescribed to treat specific organ involvement or symptoms. In some cases, sarcoidosis may resolve on its own without any treatment.

NADPH Dehydrogenase (also known as Nicotinamide Adenine Dinucleotide Phosphate Hydrogen Dehydrogenase) is an enzyme that plays a crucial role in the electron transport chain within the mitochondria of cells. It catalyzes the oxidation of NADPH to NADP+, which is a vital step in the process of cellular respiration where energy is produced in the form of ATP (Adenosine Triphosphate).

There are multiple forms of this enzyme, including both membrane-bound and soluble varieties. The membrane-bound NADPH Dehydrogenase is a complex I protein found in the inner mitochondrial membrane, while the soluble form is located in the cytosol.

Mutations in genes encoding for this enzyme can lead to various medical conditions, such as mitochondrial disorders and neurological diseases.

Respiratory burst is a term used in the field of biology, particularly in the context of immunology and cellular processes. It does not have a direct application to clinical medicine, but it is important for understanding certain physiological and pathophysiological mechanisms. Here's a definition of respiratory burst:

Respiratory burst is a rapid increase in oxygen consumption by phagocytic cells (like neutrophils, monocytes, and macrophages) following their activation in response to various stimuli, such as pathogens or inflammatory molecules. This process is part of the innate immune response and serves to eliminate invading microorganisms.

The respiratory burst involves the activation of NADPH oxidase, an enzyme complex present in the membrane of phagosomes (the compartment where pathogens are engulfed). Upon activation, NADPH oxidase catalyzes the reduction of oxygen to superoxide radicals, which then dismutate to form hydrogen peroxide. These reactive oxygen species (ROS) can directly kill or damage microorganisms and also serve as signaling molecules for other immune cells.

While respiratory burst is a crucial part of the immune response, excessive or dysregulated ROS production can contribute to tissue damage and chronic inflammation, which have implications in various pathological conditions, such as atherosclerosis, neurodegenerative diseases, and cancer.

Phagocytes are a type of white blood cell in the immune system that engulf and destroy foreign particles, microbes, and cellular debris. They play a crucial role in the body's defense against infection and tissue damage. There are several types of phagocytes, including neutrophils, monocytes, macrophages, and dendritic cells. These cells have receptors that recognize and bind to specific molecules on the surface of foreign particles or microbes, allowing them to engulf and digest the invaders. Phagocytosis is an important mechanism for maintaining tissue homeostasis and preventing the spread of infection.

Superoxides are partially reduced derivatives of oxygen that contain one extra electron, giving them an overall charge of -1. They are highly reactive and unstable, with the most common superoxide being the hydroxyl radical (•OH-) and the superoxide anion (O2-). Superoxides are produced naturally in the body during metabolic processes, particularly within the mitochondria during cellular respiration. They play a role in various physiological processes, but when produced in excess or not properly neutralized, they can contribute to oxidative stress and damage to cells and tissues, potentially leading to the development of various diseases such as cancer, atherosclerosis, and neurodegenerative disorders.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Phagocytosis is the process by which certain cells in the body, known as phagocytes, engulf and destroy foreign particles, bacteria, or dead cells. This mechanism plays a crucial role in the immune system's response to infection and inflammation. Phagocytes, such as neutrophils, monocytes, and macrophages, have receptors on their surface that recognize and bind to specific molecules (known as antigens) on the target particles or microorganisms.

Once attached, the phagocyte extends pseudopodia (cell extensions) around the particle, forming a vesicle called a phagosome that completely encloses it. The phagosome then fuses with a lysosome, an intracellular organelle containing digestive enzymes and other chemicals. This fusion results in the formation of a phagolysosome, where the engulfed particle is broken down by the action of these enzymes, neutralizing its harmful effects and allowing for the removal of cellular debris or pathogens.

Phagocytosis not only serves as a crucial defense mechanism against infections but also contributes to tissue homeostasis by removing dead cells and debris.

Aspergillosis is a medical condition that is caused by the infection of the Aspergillus fungi. This fungus is commonly found in decaying organic matter, such as leaf litter and compost piles, and can also be found in some indoor environments like air conditioning systems and old buildings with water damage.

There are several types of aspergillosis, including:

1. Allergic bronchopulmonary aspergillosis (ABPA): This type of aspergillosis occurs when a person's immune system overreacts to the Aspergillus fungi, causing inflammation in the airways and lungs. ABPA is often seen in people with asthma or cystic fibrosis.
2. Invasive aspergillosis: This is a serious and potentially life-threatening condition that occurs when the Aspergillus fungi invade the bloodstream and spread to other organs, such as the brain, heart, or kidneys. Invasive aspergillosis typically affects people with weakened immune systems, such as those undergoing chemotherapy or organ transplantation.
3. Aspergilloma: Also known as a "fungus ball," an aspergilloma is a growth of the Aspergillus fungi that forms in a preexisting lung cavity, such as one caused by previous lung disease or injury. While an aspergilloma itself is not typically harmful, it can cause symptoms like coughing up blood or chest pain if it grows too large or becomes infected.

Symptoms of aspergillosis can vary depending on the type and severity of the infection. Treatment may include antifungal medications, surgery to remove the fungal growth, or management of underlying conditions that increase the risk of infection.

Sarcoidosis, pulmonary is a specific form of sarcoidosis, which is a multisystem inflammatory disorder characterized by the formation of noncaseating granulomas (small clusters of immune cells) in one or more organs. In pulmonary sarcoidosis, these granulomas primarily affect the lungs, but can also involve the lymph nodes within the chest. The condition is often asymptomatic, but some individuals may experience symptoms such as cough, shortness of breath, chest pain, and fatigue. Pulmonary sarcoidosis can lead to complications like pulmonary fibrosis (scarring of lung tissue) and chronic interstitial lung disease, which can impact lung function and quality of life. The exact cause of sarcoidosis is unknown, but it is believed to involve an abnormal immune response triggered by exposure to certain antigens, such as environmental particles or infectious agents.

Burkholderia infections are caused by bacteria belonging to the Burkholderia genus, which includes several species that can cause various types of infection in humans. The most well-known and medically significant species include Burkholderia cepacia complex (Bcc), Burkholderia pseudomallei, and Burkholderia mallei.

1. Burkholderia cepacia Complex (Bcc): These are a group of closely related bacteria that can be found in various environments such as soil, water, and plants. They can cause respiratory infections, particularly in people with weakened immune systems or chronic lung diseases like cystic fibrosis. Bcc infections can be difficult to treat due to their resistance to many antibiotics.

2. Burkholderia pseudomallei: This species is the causative agent of melioidosis, a potentially severe and life-threatening infection endemic in tropical and subtropical regions, particularly in Southeast Asia and northern Australia. The bacteria can be found in contaminated water and soil, and people can get infected through direct contact with contaminated sources, ingestion, or inhalation of the bacteria. Melioidosis symptoms may vary widely, from mild flu-like illness to severe pneumonia, abscesses, and sepsis.

3. Burkholderia mallei: This species is responsible for glanders, a rare but serious disease primarily affecting horses, donkeys, and mules. Human infections are usually associated with occupational exposure to infected animals or their secretions. Glanders can cause severe symptoms such as fever, pneumonia, sepsis, and skin ulcers.

Treatment of Burkholderia infections typically involves the use of specific antibiotics, often in combination therapy, depending on the species and severity of infection. In some cases, surgical intervention may be necessary to drain abscesses or remove infected tissues. Preventive measures include avoiding contact with contaminated sources, practicing good hygiene, and using appropriate personal protective equipment when handling animals or working in high-risk environments.

Lymphadenitis is a medical term that refers to the inflammation of one or more lymph nodes, which are small, bean-shaped glands that are part of the body's immune system. Lymph nodes contain white blood cells called lymphocytes, which help fight infection and disease.

Lymphadenitis can occur as a result of an infection in the area near the affected lymph node or as a result of a systemic infection that has spread through the bloodstream. The inflammation causes the lymph node to become swollen, tender, and sometimes painful to the touch.

The symptoms of lymphadenitis may include fever, fatigue, and redness or warmth in the area around the affected lymph node. In some cases, the overlying skin may also appear red and inflamed. Lymphadenitis can occur in any part of the body where there are lymph nodes, including the neck, armpits, groin, and abdomen.

The underlying cause of lymphadenitis must be diagnosed and treated promptly to prevent complications such as the spread of infection or the formation of an abscess. Treatment may include antibiotics, pain relievers, and warm compresses to help reduce swelling and discomfort.

Blood bactericidal activity refers to the ability of an individual's blood to kill or inhibit the growth of bacteria. This is an important aspect of the body's immune system, as it helps to prevent infection and maintain overall health. The bactericidal activity of blood can be influenced by various factors, including the presence of antibodies, white blood cells (such as neutrophils), and complement proteins.

In medical terms, the term "bactericidal" specifically refers to an agent or substance that is capable of killing bacteria. Therefore, when we talk about blood bactericidal activity, we are referring to the collective ability of various components in the blood to kill or inhibit the growth of bacteria. This is often measured in laboratory tests as a way to assess a person's immune function and their susceptibility to infection.

It's worth noting that not all substances in the blood are bactericidal; some may simply inhibit the growth of bacteria without killing them. These substances are referred to as bacteriostatic. Both bactericidal and bacteriostatic agents play important roles in maintaining the body's defense against infection.

Membrane glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone. They are integral components of biological membranes, spanning the lipid bilayer and playing crucial roles in various cellular processes.

The glycosylation of these proteins occurs in the endoplasmic reticulum (ER) and Golgi apparatus during protein folding and trafficking. The attached glycans can vary in structure, length, and composition, which contributes to the diversity of membrane glycoproteins.

Membrane glycoproteins can be classified into two main types based on their orientation within the lipid bilayer:

1. Type I (N-linked): These glycoproteins have a single transmembrane domain and an extracellular N-terminus, where the oligosaccharides are predominantly attached via asparagine residues (Asn-X-Ser/Thr sequon).
2. Type II (C-linked): These glycoproteins possess two transmembrane domains and an intracellular C-terminus, with the oligosaccharides linked to tryptophan residues via a mannose moiety.

Membrane glycoproteins are involved in various cellular functions, such as:

* Cell adhesion and recognition
* Receptor-mediated signal transduction
* Enzymatic catalysis
* Transport of molecules across membranes
* Cell-cell communication
* Immunological responses

Some examples of membrane glycoproteins include cell surface receptors (e.g., growth factor receptors, cytokine receptors), adhesion molecules (e.g., integrins, cadherins), and transporters (e.g., ion channels, ABC transporters).

A granuloma in the respiratory tract refers to a small nodular lesion that forms in the lung tissue due to an ongoing immune response. It is typically composed of macrophages, lymphocytes, and other inflammatory cells that cluster together around a foreign substance or organism that the body cannot eliminate.

Granulomas can form in response to various stimuli, including infectious agents such as mycobacteria (tuberculosis, nontuberculous mycobacteria), fungi, and parasites, as well as non-infectious causes like inhaled particles (e.g., silica, beryllium) or autoimmune diseases (e.g., sarcoidosis).

These lesions can cause damage to the lung tissue over time, leading to symptoms such as cough, shortness of breath, chest pain, and fatigue. Diagnosis often involves imaging studies like chest X-rays or CT scans, followed by biopsy and microscopic examination to confirm the presence of granulomas and identify the underlying cause. Treatment depends on the underlying cause but may include antibiotics, corticosteroids, or other immunosuppressive medications.

Acetobacteraceae is a family of gram-negative, aerobic bacteria that are capable of converting ethanol into acetic acid, a process known as oxidative fermentation. These bacteria are commonly found in environments such as fruits, flowers, and the gut of insects. They are also used in the industrial production of vinegar and other products. Some members of this family can cause food spoilage or infections in humans with weakened immune systems.

Eurotiales is an order of fungi that belongs to the class Eurotiomycetes and division Ascomycota. This group includes several important genera of filamentous fungi, such as Aspergillus, Penicillium, and Cladosporium, among others. Many species in this order are saprophytic, meaning they live on dead or decaying organic matter, while some can be pathogenic and cause diseases in plants, animals, and humans.

The fungi in Eurotiales typically produce asexual spores called conidia that are produced in structures called conidiophores. These spores are often dispersed by air and can cause allergies or infections when inhaled. Some species of Aspergillus, for example, can cause severe lung infections in immunocompromised individuals.

Overall, Eurotiales is a diverse and ecologically important group of fungi that have significant impacts on human health, agriculture, and industry.

Zymosan is a type of substance that is derived from the cell walls of yeast and some types of fungi. It's often used in laboratory research as an agent to stimulate inflammation, because it can activate certain immune cells (such as neutrophils) and cause them to release pro-inflammatory chemicals.

In medical terms, Zymosan is sometimes used as a tool for studying the immune system and inflammation in experimental settings. It's important to note that Zymosan itself is not a medical condition or disease, but rather a research reagent with potential applications in understanding human health and disease.

Burkholderia cepacia is a gram-negative, motile bacillus that is commonly found in the environment, particularly in water and soil. It is a conditional pathogen, meaning it can cause infection in individuals with weakened immune systems or underlying lung conditions such as cystic fibrosis.

Infections caused by B. cepacia can be difficult to treat due to its resistance to many antibiotics. The bacteria can colonize the lungs and cause a chronic respiratory infection that can lead to decline in lung function, increased frequency of exacerbations, and even death in some cases. It is also associated with outbreaks in healthcare settings, particularly in patients receiving respiratory therapy or using contaminated medical equipment.

It's important to note that B. cepacia is not typically considered a community-acquired pathogen and is not commonly associated with typical pneumonia or other respiratory infections in healthy individuals.

Fungal lung diseases, also known as fungal pneumonia or mycoses, refer to a group of respiratory disorders caused by the infection of fungi in the lungs. These fungi are commonly found in the environment, such as soil, decaying organic matter, and contaminated materials. People can develop lung diseases from fungi after inhaling spores or particles that contain fungi.

There are several types of fungal lung diseases, including:

1. Aspergillosis: This is caused by the Aspergillus fungus and can affect people with weakened immune systems. It can cause allergic reactions, lung infections, or invasive aspergillosis, which can spread to other organs.
2. Cryptococcosis: This is caused by the Cryptococcus fungus and is usually found in soil contaminated with bird droppings. It can cause pneumonia, meningitis, or skin lesions.
3. Histoplasmosis: This is caused by the Histoplasma capsulatum fungus and is commonly found in the Ohio and Mississippi River valleys. It can cause flu-like symptoms, lung infections, or disseminated histoplasmosis, which can spread to other organs.
4. Blastomycosis: This is caused by the Blastomyces dermatitidis fungus and is commonly found in the southeastern and south-central United States. It can cause pneumonia, skin lesions, or disseminated blastomycosis, which can spread to other organs.
5. Coccidioidomycosis: This is caused by the Coccidioides immitis fungus and is commonly found in the southwestern United States. It can cause flu-like symptoms, lung infections, or disseminated coccidioidomycosis, which can spread to other organs.

Fungal lung diseases can range from mild to severe, depending on the type of fungus and the person's immune system. Treatment may include antifungal medications, surgery, or supportive care. Prevention measures include avoiding exposure to contaminated soil or dust, wearing protective masks in high-risk areas, and promptly seeking medical attention if symptoms develop.

Rhinosporidiosis is a tropical disease caused by the infection of the Rhinosporidium seeberi parasite. It primarily affects the mucous membranes of the nose, eyes, and occasionally other sites such as the skin, throat, and genitals. The infection results in the formation of granulomatous growths or polyps that are typically painless but can cause symptoms like nasal congestion, discharge, and bleeding. Rhinosporidiosis is not highly contagious, and it's more commonly observed in regions with warm and humid climates, such as India, Sri Lanka, and parts of Africa.

Luminescent measurements refer to the quantitative assessment of the emission of light from a substance that has been excited, typically through some form of energy input such as electrical energy or radiation. In the context of medical diagnostics and research, luminescent measurements can be used in various applications, including bioluminescence imaging, which is used to study biological processes at the cellular and molecular level.

Bioluminescence occurs when a chemical reaction produces light within a living organism, often through the action of enzymes such as luciferase. By introducing a luciferase gene into cells or organisms, researchers can use bioluminescent measurements to track cellular processes and monitor gene expression in real time.

Luminescent measurements may also be used in medical research to study the properties of materials used in medical devices, such as LEDs or optical fibers, or to develop new diagnostic tools based on light-emitting nanoparticles or other luminescent materials.

In summary, luminescent measurements are a valuable tool in medical research and diagnostics, providing a non-invasive way to study biological processes and develop new technologies for disease detection and treatment.

Rhinoscleroma is a chronic, granulomatous infection that primarily affects the nasal mucosa. It's caused by the bacterium Klebsiella rhinoscleromatis (formerly named Klebsiella pneumoniae subsp. rhinoscleromatis). The disease is characterized by the formation of firm, woody granulomas that can lead to destruction of the nasal structures and deformity of the nose if left untreated.

The infection typically progresses through three stages: catarrhal, granulomatous, and fibrotic. In the catarrhal stage, there is a persistent runny nose and nasal congestion. The granulomatous stage is characterized by the formation of nodules and plaques in the nasal passages, which can cause crusting, foul-smelling discharge, and difficulty breathing through the nose. In the fibrotic stage, the tissues of the nose become thickened, hardened, and scarred, leading to deformity and loss of function.

Rhinoscleroma is most commonly found in developing countries with poor socioeconomic conditions, particularly in tropical and subtropical regions. It's more prevalent in populations with limited access to healthcare and clean water, as well as those living in overcrowded conditions. The disease primarily affects young adults and children, and it has a slight female predominance.

Treatment for rhinoscleroma typically involves long-term antibiotic therapy using agents such as trimethoprim-sulfamethoxazole, tetracyclines, or fluoroquinolones. In some cases, surgical intervention may be necessary to remove scar tissue and restore nasal function. Preventive measures include improving living conditions, access to clean water, and early detection and treatment of the disease.

Phosphoproteins are proteins that have been post-translationally modified by the addition of a phosphate group (-PO3H2) onto specific amino acid residues, most commonly serine, threonine, or tyrosine. This process is known as phosphorylation and is mediated by enzymes called kinases. Phosphoproteins play crucial roles in various cellular processes such as signal transduction, cell cycle regulation, metabolism, and gene expression. The addition or removal of a phosphate group can activate or inhibit the function of a protein, thereby serving as a switch to control its activity. Phosphoproteins can be detected and quantified using techniques such as Western blotting, mass spectrometry, and immunofluorescence.

'Aspergillus fumigatus' is a species of fungi that belongs to the genus Aspergillus. It is a ubiquitous mold that is commonly found in decaying organic matter, such as leaf litter, compost, and rotting vegetation. This fungus is also known to be present in indoor environments, including air conditioning systems, dust, and water-damaged buildings.

Aspergillus fumigatus is an opportunistic pathogen, which means that it can cause infections in people with weakened immune systems. It can lead to a range of conditions known as aspergillosis, including allergic reactions, lung infections, and invasive infections that can spread to other parts of the body.

The fungus produces small, airborne spores that can be inhaled into the lungs, where they can cause infection. In healthy individuals, the immune system is usually able to eliminate the spores before they can cause harm. However, in people with weakened immune systems, such as those undergoing chemotherapy or organ transplantation, or those with certain underlying medical conditions like asthma or cystic fibrosis, the fungus can establish an infection.

Infections caused by Aspergillus fumigatus can be difficult to treat, and treatment options may include antifungal medications, surgery, or a combination of both. Prompt diagnosis and treatment are essential for improving outcomes in people with aspergillosis.

Granulocytes are a type of white blood cell that plays a crucial role in the body's immune system. They are called granulocytes because they contain small granules in their cytoplasm, which are filled with various enzymes and proteins that help them fight off infections and destroy foreign substances.

There are three types of granulocytes: neutrophils, eosinophils, and basophils. Neutrophils are the most abundant type and are primarily responsible for fighting bacterial infections. Eosinophils play a role in defending against parasitic infections and regulating immune responses. Basophils are involved in inflammatory reactions and allergic responses.

Granulocytes are produced in the bone marrow and released into the bloodstream, where they circulate and patrol for any signs of infection or foreign substances. When they encounter a threat, they quickly move to the site of infection or injury and release their granules to destroy the invading organisms or substances.

Abnormal levels of granulocytes in the blood can indicate an underlying medical condition, such as an infection, inflammation, or a bone marrow disorder.

Transvestism is more appropriately referred to as transvestic disorder in the current version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). It's defined as the recurring, intense sexually arousing fantasies, urges or behaviors involving cross-dressing.

In order for it to be considered a disorder, these feelings must cause significant distress or impairment in social, occupational or other areas of functioning. It's important to note that the mere act of cross-dressing does not necessarily equate to a disorder. Many people who cross-dress do not have a transvestic disorder.

The term "transvestism" is often considered outdated and stigmatizing, hence the change in terminology to "transvestic disorder" in the DSM-5. The American Psychiatric Association emphasizes that this diagnosis should be used carefully, given the potential for stigma and discrimination against individuals who engage in cross-dressing behavior but do not experience distress or impairment.

Common Variable Immunodeficiency (CVID) is a type of primary immunodeficiency disorder characterized by reduced levels of immunoglobulins (also known as antibodies) in the blood, which makes an individual more susceptible to infections. The term "common" refers to its prevalence compared to other types of immunodeficiencies, and "variable" indicates the variability in the severity and types of symptoms among affected individuals.

Immunoglobulins are proteins produced by the immune system to help fight off infections caused by bacteria, viruses, and other pathogens. In CVID, there is a deficiency in the production or function of these immunoglobulins, particularly IgG, IgA, and/or IgM. This results in recurrent infections, chronic inflammation, and an increased risk of developing autoimmune disorders and cancer.

Symptoms of CVID can include:

1. Recurrent sinus, ear, and lung infections
2. Gastrointestinal issues, such as diarrhea, bloating, and malabsorption
3. Autoimmune disorders, like rheumatoid arthritis, lupus, or inflammatory bowel disease
4. Increased risk of certain cancers, particularly lymphomas
5. Fatigue and poor growth in children
6. Delayed puberty in adolescents
7. Lung damage due to recurrent infections
8. Poor response to vaccinations

The exact cause of CVID is not fully understood, but it is believed to be related to genetic factors. In some cases, a family history of immunodeficiency disorders may be present. Diagnosis typically involves blood tests to measure immunoglobulin levels and other immune system components, as well as genetic testing to identify any known genetic mutations associated with CVID. Treatment usually consists of regular infusions of immunoglobulins to replace the missing antibodies and help prevent infections.

Itraconazole is an antifungal medication used to treat various fungal infections, including blastomycosis, histoplasmosis, aspergillosis, and candidiasis. It works by inhibiting the synthesis of ergosterol, a vital component of fungal cell membranes, thereby disrupting the integrity and function of these membranes. Itraconazole is available in oral and intravenous forms for systemic use and as a topical solution or cream for localized fungal infections.

Medical Definition:
Itraconazole (i-tra-KON-a-zole): A synthetic triazole antifungal agent used to treat various fungal infections, such as blastomycosis, histoplasmosis, aspergillosis, and candidiasis. It inhibits the synthesis of ergosterol, a critical component of fungal cell membranes, leading to disruption of their integrity and function. Itraconazole is available in oral (capsule and solution) and intravenous forms for systemic use and as a topical solution or cream for localized fungal infections.

Leukocytes, also known as white blood cells (WBCs), are a crucial component of the human immune system. They are responsible for protecting the body against infections and foreign substances. Leukocytes are produced in the bone marrow and circulate throughout the body in the bloodstream and lymphatic system.

There are several types of leukocytes, including:

1. Neutrophils - These are the most abundant type of leukocyte and are primarily responsible for fighting bacterial infections. They contain enzymes that can destroy bacteria.
2. Lymphocytes - These are responsible for producing antibodies and destroying virus-infected cells, as well as cancer cells. There are two main types of lymphocytes: B-lymphocytes and T-lymphocytes.
3. Monocytes - These are the largest type of leukocyte and help to break down and remove dead or damaged tissues, as well as microorganisms.
4. Eosinophils - These play a role in fighting parasitic infections and are also involved in allergic reactions and inflammation.
5. Basophils - These release histamine and other chemicals that cause inflammation in response to allergens or irritants.

An abnormal increase or decrease in the number of leukocytes can indicate an underlying medical condition, such as an infection, inflammation, or a blood disorder.

Burkholderia is a genus of gram-negative, rod-shaped bacteria that are widely distributed in the environment, including soil, water, and associated with plants. Some species of Burkholderia are opportunistic pathogens, meaning they can cause infection in individuals with weakened immune systems or underlying medical conditions.

One of the most well-known species of Burkholderia is B. cepacia, which can cause respiratory infections in people with cystic fibrosis and chronic granulomatous disease. Other notable species include B. pseudomallei, the causative agent of melioidosis, a potentially serious infection that primarily affects the respiratory system; and B. mallei, which causes glanders, a rare but severe disease that can affect humans and animals.

Burkholderia species are known for their resistance to many antibiotics, making them difficult to treat in some cases. Proper identification of the specific Burkholderia species involved in an infection is important for determining the most appropriate treatment approach.

A granuloma is a type of organized immune response that occurs when the body encounters a foreign substance that it cannot eliminate. A "foreign-body" granuloma specifically refers to this reaction in response to an exogenous material, such as a splinter, suture, or other types of medical implants.

Foreign-body granulomas are characterized by the formation of a collection of immune cells, including macrophages and lymphocytes, which surround and attempt to isolate the foreign material. Over time, this collection of immune cells can become walled off and form a well-circumscribed mass or nodule.

Foreign-body granulomas may cause localized symptoms such as pain, swelling, or inflammation, depending on their location and size. In some cases, they may also lead to complications such as infection or tissue damage. Treatment typically involves removing the foreign body, if possible, followed by anti-inflammatory therapy to manage any residual symptoms or complications.

N-Formylmethionine Leucyl-Phenylalanine (fMLP) is not a medical condition, but rather a synthetic peptide that is often used in laboratory settings for research purposes. It is a formylated methionine residue linked to a leucine and phenylalanine tripeptide.

fMLP is a potent chemoattractant for certain types of white blood cells, including neutrophils and monocytes. When these cells encounter fMLP, they are stimulated to migrate towards the source of the peptide and release various inflammatory mediators. As such, fMLP is often used in studies of inflammation, immune cell function, and signal transduction pathways.

It's important to note that while fMLP has important research applications, it is not a substance that would be encountered or used in clinical medicine.

Tetradecanoylphorbol acetate (TPA) is defined as a pharmacological agent that is a derivative of the phorbol ester family. It is a potent tumor promoter and activator of protein kinase C (PKC), a group of enzymes that play a role in various cellular processes such as signal transduction, proliferation, and differentiation. TPA has been widely used in research to study PKC-mediated signaling pathways and its role in cancer development and progression. It is also used in topical treatments for skin conditions such as psoriasis.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Hydrogen peroxide (H2O2) is a colorless, odorless, clear liquid with a slightly sweet taste, although drinking it is harmful and can cause poisoning. It is a weak oxidizing agent and is used as an antiseptic and a bleaching agent. In diluted form, it is used to disinfect wounds and kill bacteria and viruses on the skin; in higher concentrations, it can be used to bleach hair or remove stains from clothing. It is also used as a propellant in rocketry and in certain industrial processes. Chemically, hydrogen peroxide is composed of two hydrogen atoms and two oxygen atoms, and it is structurally similar to water (H2O), with an extra oxygen atom. This gives it its oxidizing properties, as the additional oxygen can be released and used to react with other substances.

A liver abscess is a localized collection of pus within the liver tissue caused by an infection. It can result from various sources such as bacterial or amebic infections that spread through the bloodstream, bile ducts, or directly from nearby organs. The abscess may cause symptoms like fever, pain in the upper right abdomen, nausea, vomiting, and weight loss. If left untreated, a liver abscess can lead to serious complications, including sepsis and organ failure. Diagnosis typically involves imaging tests like ultrasound or CT scan, followed by drainage of the pus and antibiotic treatment.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Acatalasia is a very rare inherited disorder that affects the body's ability to break down and remove hydrogen peroxide, a byproduct produced during normal cellular metabolism. This condition is caused by a deficiency or complete lack of the enzyme catalase, which is responsible for converting hydrogen peroxide into water and oxygen.

The medical definition of Acatalasia can be described as:

1. An autosomal recessive genetic disorder: Acatalasia is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the defective gene are carriers and do not typically show symptoms themselves.

2. Absence or deficiency of catalase enzyme: Acatalasia is characterized by a near-complete absence or significantly reduced levels of the catalase enzyme in the body, primarily in red blood cells and certain tissues such as the liver and spleen. This deficiency leads to an accumulation of hydrogen peroxide within cells.

3. Accumulation of hydrogen peroxide: The buildup of hydrogen peroxide can cause damage to cellular components, including proteins, lipids, and DNA, potentially leading to various health issues over time.

4. Clinical manifestations: Although Acatalasia is a rare condition, when it does occur, it can lead to several health problems, such as chronic granulomatous disease (CGD), which is characterized by recurrent bacterial and fungal infections due to impaired immune function. Additionally, individuals with Acatalasia may have an increased risk of developing certain types of cancer, particularly those related to the hematopoietic system (blood cells and bone marrow).

5. Diagnosis: Acatalasia can be diagnosed through various methods, including blood tests that measure catalase enzyme activity, genetic testing to identify mutations in the CAT gene (which encodes for the catalase enzyme), and clinical evaluation of symptoms and medical history.

6. Treatment and management: Currently, there is no specific treatment or cure for Acatalasia. Management typically focuses on addressing individual symptoms as they arise and implementing strategies to reduce the risk of complications. This may include antibiotics or antifungal medications to treat infections, cancer surveillance and prevention measures, and regular monitoring of overall health.

The Kell blood-group system is one of the human blood group systems, which is a set of red blood cell antigens (proteins or carbohydrates) found on the surface of red blood cells. The Kell system consists of more than 30 antigens, but the two most important ones are K and k.

The Kell antigen is inherited in an autosomal dominant manner, meaning that if an individual inherits one Kell antigen from either parent, they will express the Kell antigen on their red blood cells. The k antigen is a weaker form of the Kell antigen and is also inherited in an autosomal dominant manner.

Individuals who are Kell positive (K+) can produce antibodies against the Kell antigen if they are exposed to it through blood transfusion or pregnancy. These antibodies can cause hemolytic transfusion reactions or hemolytic disease of the newborn in subsequent pregnancies with a Kell-negative (K-) fetus.

Therefore, it is important to determine the Kell status of both donors and recipients in blood transfusions and pregnant women to prevent complications.

Luminol is not a medical term itself, but it is often used in forensic science which can have applications in the medical field. Luminol is a chemical compound that exhibits chemiluminescence, meaning it emits light when it reacts with certain substances. In forensic science, luminol is commonly used to detect the presence of blood at crime scenes, even if the blood has been cleaned up or is no longer visible to the naked eye. When luminol comes into contact with iron in hemoglobin (a protein found in red blood cells), it produces a bright blue light. This reaction can help investigators locate and document evidence of blood stains that might otherwise go unnoticed.

Mycoses are a group of diseases caused by fungal infections. These infections can affect various parts of the body, including the skin, nails, hair, lungs, and internal organs. The severity of mycoses can range from superficial, mild infections to systemic, life-threatening conditions, depending on the type of fungus and the immune status of the infected individual. Some common types of mycoses include candidiasis, dermatophytosis, histoplasmosis, coccidioidomycosis, and aspergillosis. Treatment typically involves antifungal medications, which can be topical or systemic, depending on the location and severity of the infection.

Oxygen consumption, also known as oxygen uptake, is the amount of oxygen that is consumed or utilized by the body during a specific period of time, usually measured in liters per minute (L/min). It is a common measurement used in exercise physiology and critical care medicine to assess an individual's aerobic metabolism and overall health status.

In clinical settings, oxygen consumption is often measured during cardiopulmonary exercise testing (CPET) to evaluate cardiovascular function, pulmonary function, and exercise capacity in patients with various medical conditions such as heart failure, chronic obstructive pulmonary disease (COPD), and other respiratory or cardiac disorders.

During exercise, oxygen is consumed by the muscles to generate energy through a process called oxidative phosphorylation. The amount of oxygen consumed during exercise can provide important information about an individual's fitness level, exercise capacity, and overall health status. Additionally, measuring oxygen consumption can help healthcare providers assess the effectiveness of treatments and rehabilitation programs in patients with various medical conditions.

'Aspergillus nidulans' is a species of filamentous fungi that belongs to the genus Aspergillus. It is commonly found in soil, decaying vegetation, and indoor environments such as air conditioning systems and damp buildings. This fungus can produce spores that become airborne and can be inhaled, which can cause respiratory infections in individuals with weakened immune systems.

'Aspergillus nidulans' is also a widely used model organism in scientific research, particularly in the fields of genetics, molecular biology, and cell biology. Its genetic tractability, short life cycle, and ability to grow at a wide range of temperatures make it an ideal system for studying fundamental biological processes such as DNA repair, cell division, and metabolism. Additionally, this fungus is known to produce a variety of secondary metabolites, including pigments, antibiotics, and mycotoxins, which have potential applications in medicine and industry.

Peroxidase is a type of enzyme that catalyzes the chemical reaction in which hydrogen peroxide (H2O2) is broken down into water (H2O) and oxygen (O2). This enzymatic reaction also involves the oxidation of various organic and inorganic compounds, which can serve as electron donors.

Peroxidases are widely distributed in nature and can be found in various organisms, including bacteria, fungi, plants, and animals. They play important roles in various biological processes, such as defense against oxidative stress, breakdown of toxic substances, and participation in metabolic pathways.

The peroxidase-catalyzed reaction can be represented by the following chemical equation:

H2O2 + 2e- + 2H+ → 2H2O

In this reaction, hydrogen peroxide is reduced to water, and the electron donor is oxidized. The peroxidase enzyme facilitates the transfer of electrons between the substrate (hydrogen peroxide) and the electron donor, making the reaction more efficient and specific.

Peroxidases have various applications in medicine, industry, and research. For example, they can be used for diagnostic purposes, as biosensors, and in the treatment of wastewater and medical wastes. Additionally, peroxidases are involved in several pathological conditions, such as inflammation, cancer, and neurodegenerative diseases, making them potential targets for therapeutic interventions.

Monocytes are a type of white blood cell that are part of the immune system. They are large cells with a round or oval shape and a nucleus that is typically indented or horseshoe-shaped. Monocytes are produced in the bone marrow and then circulate in the bloodstream, where they can differentiate into other types of immune cells such as macrophages and dendritic cells.

Monocytes play an important role in the body's defense against infection and tissue damage. They are able to engulf and digest foreign particles, microorganisms, and dead or damaged cells, which helps to clear them from the body. Monocytes also produce cytokines, which are signaling molecules that help to coordinate the immune response.

Elevated levels of monocytes in the bloodstream can be a sign of an ongoing infection, inflammation, or other medical conditions such as cancer or autoimmune disorders.

Glucose oxidase (GOD) is an enzyme that catalyzes the oxidation of D-glucose to D-glucono-1,5-lactone, while reducing oxygen to hydrogen peroxide in the process. This reaction is a part of the metabolic pathway in some organisms that convert glucose into energy. The systematic name for this enzyme is D-glucose:oxygen 1-oxidoreductase.

Glucose oxidase is commonly found in certain fungi, such as Aspergillus niger, and it has various applications in industry, medicine, and research. For instance, it's used in the production of glucose sensors for monitoring blood sugar levels, in the detection and quantification of glucose in food and beverages, and in the development of biosensors for environmental monitoring.

It's worth noting that while glucose oxidase has many applications, it should not be confused with glutathione peroxidase, another enzyme involved in the reduction of hydrogen peroxide to water.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

"Paecilomyces" is a genus of filamentous fungi that belongs to the family Aspergillaceae. These fungi are widely distributed in the environment and can be found in various habitats such as soil, decaying vegetation, and insects. Some species of Paecilomyces are known to produce secondary metabolites with potential medicinal applications, while others have been identified as opportunistic pathogens that can cause invasive infections in immunocompromised individuals.

In medical contexts, "Paecilomyces" typically refers to the species P. lilacinus and P. variotii, which are the most commonly encountered human pathogens. These fungi can cause a range of infections, including mycetoma, endocarditis, pneumonia, and disseminated infections. The diagnosis of Paecilomyces infections typically involves microscopic examination of clinical specimens and culture-based methods, while treatment usually requires the use of antifungal agents such as amphotericin B or voriconazole.

It's worth noting that "Paecilomyces" is a complex genus with many species, some of which have been reclassified or renamed in recent years. Therefore, it's important to consult up-to-date taxonomic resources when working with this group of fungi.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Chrysosporium is a genus of saprophytic fungi that are commonly found in soil, organic debris, and water. The name "Chrysosporium" comes from the Greek words "chryso," meaning gold, and "sporios," meaning seed or spore, referring to the golden-colored spores produced by these fungi.

Chrysosporium species are filamentous fungi that produce septate hyphae and asexual spores called conidia. The conidia are typically round, oval, or cylindrical in shape and are produced in various arrangements on specialized structures called conidiophores.

Chrysosporium species are generally considered to be non-pathogenic and are not associated with human disease. However, some species have been reported to cause rare opportunistic infections in immunocompromised individuals. In addition, Chrysosporium species are commonly used as model organisms in studies of fungal biology and ecology.

Nocardia infections are caused by Nocardia species, a type of gram-positive, aerobic, filamentous bacteria that can be found in soil, dust, and decaying vegetation. These infections primarily affect the lungs (pulmonary nocardiosis) when the bacteria are inhaled but can also spread to other parts of the body, causing disseminated nocardiosis. People with weakened immune systems, such as those with HIV/AIDS, organ transplants, or long-term steroid use, are at a higher risk of developing Nocardia infections. Symptoms vary depending on the site of infection and may include cough, chest pain, shortness of breath, skin abscesses, brain abscesses, or joint inflammation. Diagnosis typically involves microbiological culture and identification of the bacteria from clinical samples, while treatment usually consists of long-term antibiotic therapy, often involving multiple drugs.

Perioral dermatitis is a common skin condition that affects the area around the mouth. It is characterized by small red bumps or papules, and sometimes pustules, that appear on the skin around the lips, chin, and nose. The skin may also become scaly, dry, and inflamed.

The exact cause of perioral dermatitis is not fully understood, but it is thought to be related to the use of topical steroids, certain cosmetics or skincare products, hormonal fluctuations, or chronic irritation. It is more common in women than men, and typically affects people between the ages of 16 and 45.

Treatment for perioral dermatitis may include avoiding triggers such as topical steroids or certain skincare products, using gentle cleansers and moisturizers, and taking antibiotics or other medications to reduce inflammation and treat any underlying infection. It is important to consult with a healthcare provider or dermatologist for an accurate diagnosis and treatment plan.

Switzerland Pediatric Chronic Granulomatous Disease at eMedicine Assari T (September 2006). "Chronic Granulomatous Disease; ... Chronic granulomatous disease (CGD), also known as Bridges-Good syndrome, chronic granulomatous disorder, and Quie syndrome, is ... August 2002). "Nocardia infection in chronic granulomatous disease". Clinical Infectious Diseases. 35 (4): 390-4. doi:10.1086/ ... recessive cytochrome b-positive CGD type II atypical granulomatous disease Management of chronic granulomatous disease revolves ...
In some diseases, e.g., the rare chronic granulomatous disease, the efficiency of phagocytes is impaired, and recurrent ... "Chronic granulomatous disease". J Pak Med Assoc. 58 (9): 516-18. PMID 18846805. Kaplan J, De Domenico I, Ward DM (January 2008 ... In this disease there is an abnormality affecting different elements of oxygen-dependent killing. Other rare congenital ... In contrast to necrosis, which often results from disease or trauma, apoptosis-or programmed cell death-is a normal healthy ...
X-linked chronic granulomatous disease (third update)". Blood Cells, Molecules & Diseases. 45 (3): 246-65. doi:10.1016/j.bcmd. ... the autosomal recessive forms of chronic granulomatous disease (second update)". Blood Cells, Molecules & Diseases. 44 (4): 291 ... Mutations in CYBA or CYBB, encoding p22phox or NOX2, respectively, lead to Chronic granulomatous disease because of the absence ... The importance of the role of p22phox was evidenced by the discovery of autosomal recessive chronic granulomatous disease ...
Rosenzweig SD (2008). "Inflammatory manifestations in chronic granulomatous disease (CGD)". J. Clin. Immunol. 28 Suppl 1: S67- ... and alpha-synuclein in sporadic Parkinson's disease". Hum. Genet. 124 (1): 89-94. doi:10.1007/s00439-008-0525-5. PMID 18568448 ...
Molecular basis of chronic granulomatous disease. Blood 77:673-686. Rothe G, Oser A and G. Valet. 1988. Dihydrorhodamin 123: a ... Neutrophil oxidative burst test (or chronic granulomatous disease (CGD) test) is a measure of neutrophil oxidation and is a ... useful assay in the diagnosis of chronic granulomatous disease and is also a useful means to determine the overall metabolic ... eds) Phagocytes and Disease. Kluwer, Dordrecht Boston, New York, pp 103-118. Smith, R.M. and J.T. Curnutte. 1991. ...
Chronic Granulomatous Disease is an inherited disease of human neutrophils, wherein NOX2 is defective. Phagocytosis may still ... Fernandez J. "Chronic Granulomatous Disease (CGD) - Immunology; Allergic Disorders". MSD Manual Professional Edition. Retrieved ... It is also involved in disease states such as cancer. The NADPH oxidase isoform NOX1 transiently produces a burst of superoxide ... Tenhaken R, Levine A, Brisson LF, Dixon RA, Lamb C (May 1995). "Function of the oxidative burst in hypersensitive disease ...
Segal AW (1996). "The NADPH oxidase and chronic granulomatous disease". Mol. Med. Today (Regul. Ed.). 2 (3): 129-135. doi: ...
Infection causes a local chronic granulomatous reaction. The condition is typically diagnosed after noticing facial changes. ... The extent of disease may be seen using medical imaging such as CT scanning of the nose and sinus. Diagnosis may be confirmed ... The extent of disease may be seen using medical imaging such as CT scanning of the nose and sinus. Diagnosis can be confirmed ... The disease is acquired usually by breathing in the spores of the fungus, which then infect the tissue of the nose and ...
"A controlled trial of interferon-gamma to prevent infection in chronic granulomatous disease. The international chronic ... Nunoi H, Rotrosen D, Gallin JI, Malech HL (Dec 1988). "Two forms of autosomal chronic granulomatous disease lack distinct ... Gallin JI, Alling DW, Malech HL, others (Jun 2003). "Itraconazole to Prevent Fungal Infections in Chronic Granulomatous Disease ... actin interacting protein deficiency and chronic granulomatous disease (CGD). When phagocytes fail to produce hydrogen peroxide ...
Marsh WL, Oyen R, Nichols ME, Allen FH (February 1975). "Chronic granulomatous disease and the Kell blood groups". Br. J. ... the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result ... Absence of the XK protein is an X-linked disease. Mutational variants result in McLeod syndrome either with or without ... an individual with one relatively small deletion may have both diseases. The phenotype may be present without the syndrome ...
"Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease". Emerging Infectious Diseases. 16 (9): 1341- ... Granulibacter bethesdensis Infection of Neutrophils from Healthy Subjects and Patients with Chronic Granulomatous Disease". ... 2009). National Institute of Allergy and Infectious Diseases, NIH. Totowa, N.J.: Humana. ISBN 978-1-60761-512-5. Greenberg, DE ...
... cause the severe immunodeficiency disease of Chronic Granulomatous Disease (CGD). He showed that the mechanism by which ... His major discoveries have been the NADPH oxidase and causes of Chronic Granulomatous Disease (CGD): The identity of the NADPH ... He determined the causes of Crohn's disease, a chronic granulomatous inflammation that predominantly affects the terminal small ... "Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance ...
To highlight the importance of this defense, individuals with chronic granulomatous disease who have deficiencies in generating ... Deffert C, Cachat J, Krause KH (August 2014). "Phagocyte NADPH oxidase, chronic granulomatous disease and mycobacterial ... Memory capabilities decline with age, evident in human degenerative diseases such as Alzheimer's disease, which is accompanied ... chronic inflammation, and cancer. ROS induces chronic inflammation by the induction of COX-2, inflammatory cytokines (TNFα, ...
January 2017). "Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease". Blood Advances. ... January 2017). "Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease". Blood Advances. ... January 2017). "Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease". Blood Advances. ... the NCF1C gene will inactivate and can lead to chronic granulomatous disease. GRCh38: Ensembl release 89: ENSG00000165178 - ...
January 2008). "Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease". Nature. 451 ( ... Expression of IDO is induced by interferon-gamma, which explains why the expression increases during inflammatory diseases or ... The Journal of Infectious Diseases. 178 (3): 875-8. doi:10.1086/515347. PMID 9728563. Adams O, Besken K, Oberdörfer C, ... "IDO2 in Immunomodulation and Autoimmune Disease". Frontiers in Immunology. 5: 585. doi:10.3389/fimmu.2014.00585. PMC 4238401. ...
Diagnosis and successful treatment in chronic granulomatous disease". Medical Mycology. 44 (8): 749-53. doi:10.1080/ ... Diagnosis and successful treatment in chronic granulomatous disease". Medical Mycology. 44 (8): 749-53. doi:10.1080/ ... piceum is an anamorph species of fungi in the genus Penicillium which can cause in rare cases chronic granulomatous disease. ...
Interferon-γ 1b is approved by the U.S. Food and Drug Administration to treat chronic granulomatous disease (CGD) and ... Errante PR, Frazão JB, Condino-Neto A (November 2008). "The use of interferon-gamma therapy in chronic granulomatous disease". ... A review of its pharmacology and therapeutic potential in chronic granulomatous disease". Drugs. 43 (1): 111-122. doi:10.2165/ ... Examples of non-infectious granulomatous diseases are sarcoidosis, Crohn's disease, berylliosis, giant-cell arteritis, ...
Necrobiosis lipoidica (NL) is chronic granulomatous disease of the skin. It involves shiny patches or plaques with a sclerotic ... Oral lichen planus (OLP) is a chronic inflammatory T- cellular disorder that strikes the oral mucosa. In a clinical report in ... In serious hepatic impairment and final stages of renal disease, Abrocitinib is contraindicated. Some changes may occur during ... moderate-to-severe atopic dermatitis whose disease is not adequately controlled with other systemic drug products, including ...
Causes include granulomatous disease, necrotising pneumonia and radiation fibrosis. Chronic atelectasis may take one of two ... Factors also associated with the development of atelectasis include: age, presence of chronic obstructive pulmonary disease or ... In chronic atelectasis, the affected area is often characterized by a complex mixture of airlessness, infection, widening of ... Chronic atelectasis is often treated with antibiotics because infection is almost inevitable. In certain cases, the affected ...
CJ, Campoverde Espinoza (2017). "pulmonary infection by Arthrographis kalrae in patient with chronic granulomatous disease". ... severe infections have been encountered in immunocompromised individuals such as people with chronic diseases, those receiving ...
Teahan C, Rowe P, Parker P, Totty N, Segal AW (1987). "The X-linked chronic granulomatous disease gene codes for the beta-chain ... Ariga T, Furuta H, Cho K, Sakiyama Y (July 1998). "Genetic analysis of 13 families with X-linked chronic granulomatous disease ... October 1993). "A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease". European ... "Entrez Gene: CYBB cytochrome b-245, beta polypeptide (chronic granulomatous disease)". Hervé C, Tonon T, Collén J, Corre E, ...
... chronic granulomatous disease)". v t e (Articles with short description, Short description matches Wikidata, Cytochromes, All ...
Mutations in this gene have been associated with chronic granulomatous disease. Genetic variability in the NCF1 gene has been ... Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P, Segal AW (1991). "Autosomal recessive chronic granulomatous disease ... "Entrez Gene: NCF1 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)". "Study of complex genetic ... deficient chronic granulomatous disease". J. Clin. Invest. 100 (8): 1907-18. doi:10.1172/JCI119721. PMC 508379. PMID 9329953. ...
A variant of chronic granulomatous disease: deficient oxidative metabolism due to a low-affinity NADPH oxidase. N Engl J Med. ... Stossel TP, Root RK, Vaugan M. Phagocytosis in chronic granulomatous disease and the Chediak-Higashi syndrome. N Engl J Med. ... Functional comparison of Chediak-Higashi syndrome and chronic granulomatous disease leukocytes. Birth defects; original article ... Actin filaments mediate DNA fiber formation in chronic inflammatory airway disease. Am J Path. 1996; 148: 919-927. 124. Hartwig ...
It is possible with chronic infection for the disease to spread to underlying bone. In humans it can cause arteritis, keratitis ... They are granulomatous and itchy, and may be ulcerated or fistulated. The lesions often contain yellow, firm masses of dead ... Spread of the disease to distant lymph nodes, large blood vessels, and the lungs may occur. An aneurysm of a great vessel can ... The disease is typically found in young, large breed dogs. It is suspected that pythiosis is caused by invasion of the organism ...
The first association of an invasive infection on human occurred on a patient with chronic granulomatous disease. In addition, ... two similar chronic granulomatous disease cases of I. tropicalis infection were later found in immunodeficient children and ... tropicalis as an Etiologic Agent in a Patient with Chronic Granulomatous Disease". Journal of Clinical Microbiology. 43 (2): ... tropicalis Osteomyelitis in Pediatric and Adult X-linked Chronic Granulomatous Disease". Journal of Allergy and Clinical ...
"Multifocal osteomyelitis caused by Paecilomyces varioti in a patient with chronic granulomatous disease". Infection. 23 (1): 55 ... Dhindsa MK, Naidu J, Singh SM, Jain SK (1995). "Chronic suppurative otitis media caused by Paecilomyces variotii". Journal of ... Paecilomyces variotii has been associated with a number of infective diseases of humans and animals. Paecilomyces variotii was ... Most cases are known from diabetics or individuals subject to long-term corticosteroid treatment for other diseases. P. ...
Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease. GRCh38: ... "Entrez Gene: NCF2 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)". Wientjes FB, Segal AW ( ... "Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification ... "Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)". American ...
1990: Actimmune (interferon gamma 1b): Treatment of chronic granulomatous disease (licensed to Intermune). 1993: Nutropin ( ... Growth hormone for children and adults for treatment before kidney transplant due to chronic kidney disease. 1993: Pulmozyme ( ... 2013: Gazyva (obinutuzumab): For use in combination with chlorambucil to treat patients with previously untreated chronic ... Treatment for patients with chronic lymphocytic leukemia (CLL) who have a chromosomal abnormality called 17p deletion and who ...
Chronic berylliosis is a pulmonary and systemic granulomatous disease caused by exposure to beryllium. Between 1% - 15% of ... Information about chronic beryllium disease. Boron at WebElements. Properties of boron. W.T.M.L. Fernando; L.C. O'Brien; P.F. ... called chronic beryllium disease or berylliosis. The body's immune system recognises the beryllium as foreign particles and ...
Switzerland Pediatric Chronic Granulomatous Disease at eMedicine Assari T (September 2006). "Chronic Granulomatous Disease; ... Chronic granulomatous disease (CGD), also known as Bridges-Good syndrome, chronic granulomatous disorder, and Quie syndrome, is ... August 2002). "Nocardia infection in chronic granulomatous disease". Clinical Infectious Diseases. 35 (4): 390-4. doi:10.1086/ ... recessive cytochrome b-positive CGD type II atypical granulomatous disease Management of chronic granulomatous disease revolves ...
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of ... Genetic Testing Registry: Granulomatous disease, chronic, X-linked *Genetic Testing Registry: Granulomatous disease, chronic, ... medlineplus.gov/genetics/condition/chronic-granulomatous-disease/ Chronic granulomatous disease. ... Catalog of Genes and Diseases from OMIM. *GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX ...
... is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins ... Chronic Granulomatous Disease Methods Mol Biol. 2019:1982:531-542. doi: 10.1007/978-1-4939-9424-3_32. ... Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins ... Granulomatous Disease, Chronic / diagnosis * Granulomatous Disease, Chronic / etiology* * Granulomatous Disease, Chronic / ...
Chronic granulomatous disease is a syndrome that typically manifests as pneumonia, infectious dermatitis, and recur... ... Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and leads ... encoded search term (Chronic Granulomatous Disease) and Chronic Granulomatous Disease What to Read Next on Medscape ... Chronic granulomatous disease (CGD) is a rare (∼1:250,000 births) disease caused by mutations in any one of the five components ...
Chronic Granulomatous Disease [CGD]. CGD Research Trust and Support Group Includes kids page, research information, dos and ...
... is an inherited disease in which the bodys cells that eat invaders (also called phagocytes) do not make hydrogen peroxide and ... Chronic granulomatous disease (CGD) and other phagocytic cell disorders Chronic granulomatous disease (CGD) is an inherited ... Chronic Granulomatous Disease Association The Chronic Granulomatous Disease Association (CGDA), founded in 1982, is a nonprofit ... Chronic granulomatous disease (CGD) is a type of primary immunodeficiency (PI) in which one group of the bodys white blood ...
Keywords: Hepatomegaly, Chronic Granulomatous Disease. Clinical Problem :. A 4½-month-old boy, first by birth order, born of a ... Chronic granulomatous disease: Two decades of experience from a tertiary care centre in North West India. J Clin Immunol. 2014; ... Massive Hepatomegaly as a presentation of Chronic Granulomatous Disease. Rhea Vyas1, Ira Shah2. 1Seth G S Medical College, ... Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore) 2000; 79:155-169.*Rawat A, ...
Chronic granulomatous diseaseChronic granulomatous disease CausesChronic granulomatous disease Risk Factors ... Chronic granulomatous disease : Overview, Causes, & Risk Factors. * Chronic granulomatous disease : Symptoms & Signs, Diagnosis ... Chronic granulomatous disease of childhood, Progressive septic granulomatosis. Definition. Chronic granulomatous disease is an ... In chronic granulomatous disease (CGD), phagocytic cells are unable to kill certain bacteria and fungi. This leads to long term ...
Considerations in the Diagnosis of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc. 2018;7(S1):S6-S11. doi: 10.1093/ ... Retrieved from "https://idwiki.org/index.php?title=Chronic_granulomatous_disease&oldid=8629" ...
Directions to Hospitals Treating Chronic granulomatous disease Risk calculators and risk factors for Chronic granulomatous ... Chronic granulomatous disease (CGD) is a diverse group of hereditary diseases in which certain cells of the immune system have ... Management of chronic granulomatous disease revolves around two goals: 1) diagnose the disease early so that antibiotics can be ... "A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. The International Chronic ...
Chronic granulomatous disease. Synonyms: CGD , Chronic septic granulomatosis. A rare primary immunodeficiency mainly affecting ... with a granulomatous diseaseSystemic diseases with anterior uveitisSystemic diseases with posterior uveitisSystemic diseases ... Chronic granulomatous disease?. Our RARE Concierge Services Guides are available to assist you by providing information, ... Chronic granulomatous disease. Get in touch with RARE Concierge.. Contact RARE Concierge ...
Chronic granulomatous disease is a syndrome that typically manifests as pneumonia, infectious dermatitis, and recur... ... Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and leads ... encoded search term (Chronic Granulomatous Disease) and Chronic Granulomatous Disease What to Read Next on Medscape ... Chronic granulomatous disease (CGD) is a rare (∼1:250,000 births) disease caused by mutations in any one of the five components ...
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Spontaneous cystoid macula oedema in chronic granulomatous disease: a new posterior segment sign. Eye. 2006 Sept 1;20(9):1111- ... Clifford, L. ; Newsom, R. S. B. / Spontaneous cystoid macula oedema in chronic granulomatous disease : a new posterior segment ... Spontaneous cystoid macula oedema in chronic granulomatous disease: a new posterior segment sign. / Clifford, L.; Newsom, R. S ... Clifford, L., & Newsom, R. S. B. (2006). Spontaneous cystoid macula oedema in chronic granulomatous disease: a new posterior ...
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H+ currents of resting phagocytes. It participates in the regulation of cellular PH and is blocked by zinc.. ...
Managing a Career While Managing Chronic Granulomatous Disease (CGD). Read the full video transcript. When it comes to having ... ACTIMMUNE® is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually ... ACTIMMUNE® is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually ... Interested in learning more about Chronic Granulomatous Disease? Call a CGD Nurse Advocate: 1-833-346-9243 ...
Children with chronic granulomatous disease often have a lot of questions. Watch this video for some help with the answers. ... Explaining Chronic Granulomatous Disease (CGD) to Children. Read the full video transcript. Voiceover/Sound ... ACTIMMUNE® is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually ... ACTIMMUNE® is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually ...
Cutaneous alternariosis with chronic granulomatous disease. In: European Journal of Dermatology. 2005 ; Vol. 15, No. 5. pp. 406 ... Cutaneous alternariosis with chronic granulomatous disease. / Uenotsuchi, Takeshi; Moroi, Yoichi; Urabe, Kazunori et al. In: ... Cutaneous alternariosis with chronic granulomatous disease. Takeshi Uenotsuchi, Yoichi Moroi, Kazunori Urabe, Shuji Fukagawa, ... Cutaneous alternariosis with chronic granulomatous disease. European Journal of Dermatology. 2005 Sept;15(5):406-408. ...
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Chronic Granulomatous Disease (CGD) - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical ... Chronic granulomatous disease and other phagocytic cell disorders: General information on chronic granulomatous disease, ... Chronic Granulomatous Disease (CGD) By James Fernandez , MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western ... Sometimes chronic granulomatous disease is inherited as an autosomal (not X-linked) recessive disorder Recessive disorders ...
Chronic granulomatous disease is a syndrome that typically manifests as pneumonia, infectious dermatitis, and recur... ... Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and leads ... How is chronic granulomatous disease (CGD) treated?. What is the role of gene therapy in the treatment of chronic granulomatous ... What is the US prevalence of chronic granulomatous disease (CGD)?. What is the global prevalence of chronic granulomatous ...
Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease Chronic granulomatous disease is ...
Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan. Masakatsu Yanagimachi, Koji Kato, Akihiro Iguchi ... Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan. Frontiers in Immunology. 2020 Jul 29;11:1617. ... Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan. In: Frontiers in Immunology. 2020 ; Vol. 11. ... Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan. / Yanagimachi, Masakatsu; Kato, Koji; Iguchi, ...
Multifocal pneumonia on CT scan in a young boy with chronic granulomatous disease. (Used with permission from Alison Greiwe, MD ... Chronic granulomatous disease (CGD) is the result of impaired intracellular microbial killing by phagocytes leading to ... "Chronic Granulomatous Disease." The Color Atlas of Pediatrics Usatine RP, Sabella C, Smith M, Mayeaux EJ, Jr., Chumley HS, ... Chronic Granulomatous Disease. In: Usatine RP, Sabella C, Smith M, Mayeaux EJ, Jr., Chumley HS, Appachi E. Usatine R.P., & ...
Chronic Granulomatous Disease: Genetics, Biology and Clinical Management. $0.00. Select options. Sort by popularity. Sort by ...
Chronic granulomatous disease. Live bacterial vaccines(g). Recombinant zoster(e). Live viral vaccines likely safe and effective ... Patients with a specific type of defect in phagocytic function-chronic granulomatous disease-should receive recommended live ... Patients with any defect in phagocytic function (e.g., chronic granulomatous disease, leukocyte adhesion deficiency, ... Examples include congenital immunodeficiency diseases such as X-linked agammaglobulinemia, SCID, and chronic granulomatous ...
Conclusion: Among infectious diseases, fungal infections, in particular aspergillosis, remain a serious problem in CGD patients ... Chronic granulomatous disease (CGD) is an inherited disorder of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase ... Background and Purpose: Chronic granulomatous disease (CGD) is an inherited disorder of the nicotinamide adenine dinucleotide ... Osteomyelitis and lung abscess due to Aspergillus fumigatus in a chronic granulomatous disease patient. ...
  • We experienced a rare case of a patient with chronic granulomatous disease with unique pathological and radiological presentations of hypersensitive pneumonitis, which to our knowledge has never been previously reported. (biomedcentral.com)
  • When we encounter a case of hypersensitive pneumonitis showing atypical pulmonary mass-like opacities in a patient with chronic granulomatous disease, we should consider hyperinflammatory status and excessive granuloma formation of chronic granulomatous disease and start with high-dose steroid therapy as treatment. (biomedcentral.com)
  • Mutations in the CYBA , CYBB , NCF1 , NCF2 , or NCF4 gene can cause chronic granulomatous disease. (medlineplus.gov)
  • Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins. (nih.gov)
  • Chronic granulomatous disease (CGD) is a rare (∼1:250,000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. (medscape.com)
  • Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). (medscape.com)
  • Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. (medscape.com)
  • Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. (medscape.com)
  • Chronic granulomatous disease (CGD), an immunodeficiency with recurrent pyogenic infections and granulomatous in-flammation, results from loss of phagocyte superoxide production by recessive mutations in any 1 of 4 genes encoding subunits of the phagocyte NADPH oxidase. (wustl.edu)
  • A fifth subunit, p40 phox , plays an important role in phagocytosis-induced superoxide production via a phox homology (PX) domain that binds to phosphatidylinositol 3-phosphate (PtdIns(3)P). We report the first case of autosomal recessive mutations in NCF4, the gene encoding p40 phox , in a boy who presented with granulomatous colitis. (wustl.edu)
  • CHF-funded researchers at Cornell University have been studying this disease to identify the underlying genetic mutations and explore the molecular processes involved. (akcchf.org)
  • CHF-funded investigators describe several genetic mutations that contribute to the risk of Addison's Disease in the Bearded Collie. (akcchf.org)
  • Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. (medlineplus.gov)
  • Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. (medlineplus.gov)
  • Chronic granulomatous disease (CGD) is a type of primary immunodeficiency (PI) in which one group of the body's white blood cells, called neutrophils, fail to make the hydrogen peroxide, bleach, and other chemicals needed to fight bacterial and fungal infections. (primaryimmune.org)
  • CGD is a rare congenital immunodeficiency disease with an incidence of 1 in 2,00,000 to 1 in 2,50,000 live births that causes repeated bacterial and fungal infections from early childhood and infancy. (pediatriconcall.com)
  • 6 Due to the increased frequency of infections and increased load on the body and immune system to fight these infections, patients are also seen with involvement of the reticuloendothelial system leading to hepatomegaly, splenomegaly lymphadenopathy, hypergammaglobulinemia, and anemia of chronic disease. (pediatriconcall.com)
  • This leads to long term (chronic) and repeated (recurrent) infections. (health32.com)
  • Risk factors include a family history of recurrent or chronic infections. (health32.com)
  • Common severe infections in chronic granulomatous disease. (medscape.com)
  • Chronic granulomatous disease (CGD) is the result of impaired intracellular microbial killing by phagocytes leading to formation of granulomata and recurrent infections with bacteria and fungi. (mhmedical.com)
  • Conclusion: Among infectious diseases, fungal infections, in particular aspergillosis, remain a serious problem in CGD patients. (ac.ir)
  • Infections, inflammatory diseases, and other factors such as the following are associated with lung granulomas. (healthline.com)
  • Lung granulomas are associated with some common variable immunodeficiency disorders (CVID) that prevent your body from fighting infections and diseases. (healthline.com)
  • Chronic granulomatous disease (CGD) is a hereditary immunodeficiency disease characterized by failure of phagocytic capacity due to a defect of nicotinamide adenine dinucleotide phosphate reactive oxygen species production and lack of bacterial killing, which causes recurrent life-threatening infections. (biomedcentral.com)
  • A dysfunction of phagocyte NOX, on the other hand, results in chronic granulomatous disease (CGD) in humans, characterized by recurrent bacterial and fungal infections as well as granuloma formation and hyperinflammation. (frontiersin.org)
  • In a recent article, published in October 2015, in the peer-reviewed journal, "Immunology Report," researchers reviewed 27 patients at Ann & Robert H. Lurie Children's Hospital of Chicago from March 1985 to November 2013 to test for the types and rates of infections in patients with Chronic Granulomatous Disease (CGD). (primaryimmune.org)
  • certain localized infections - see body system-related chapters infectious and parasitic diseases complicating pregnancy, childbirth and the puerperium [except obstetrical tetanus] (O98. (who.int)
  • Chronic granulomatous disease (CGD) is a genetically heterogeneous immunodeficiency disorder resulting from the inability of phagocytes to kill microbes they have ingested. (medscape.com)
  • Chronic granulomatous disease (CGD) is an inherited disease in which the body's cells that eat invaders (also called phagocytes) do not make hydrogen peroxide and other chemicals. (primaryimmune.org)
  • Chronic granulomatous disease is an inherited disorder in which immune system cells called phagocytes do not function properly. (health32.com)
  • Chronic granulomatous disease is a hereditary immunodeficiency disorder in which phagocytes (a type of white blood cell) malfunction. (msdmanuals.com)
  • In chronic granulomatous disease, phagocytes can ingest bacteria and fungi but cannot produce the substances (such as hydrogen peroxide and superoxide) that kill them. (msdmanuals.com)
  • To diagnose chronic granulomatous disease, doctors do a blood test that measures the activity of phagocytes in response to microorganisms. (msdmanuals.com)
  • In 1986, the X-linked form of CGD was the first disease for which positional cloning was used to identify the underlying genetic mutation. (wikipedia.org)
  • The extent to which environmental and secondary genetic factors influence phenotypic expression of disease is unknown. (medscape.com)
  • Genetic, biochemical, and clinical features of chronic granulomatous disease. (pediatriconcall.com)
  • To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure. (globalgenes.org)
  • Jurkowska M, Bernatowska E, Bal J. Genetic and biochemical background of chronic granulomatous disease. (medscape.com)
  • Jurkowska M, Kurenko-Deptuch M, Bal J, Roos D. The search for a genetic defect in Polish patients with chronic granulomatous disease. (medscape.com)
  • CHF-funded investigators at Tufts University are examining the genetic and metabolic factors associated with bloat to understand the true cause of this disease. (akcchf.org)
  • Inhaling vapors, gas, dust, or fumes at work cause disease beyond asthma and chronic obstructive pulmonary disease (COPD), according to the statement, which reported an in-depth literature review and data synthesis. (ajmc.com)
  • Sarwar G, de Malmanche T, Rassam L, Grainge C, Williams A, Arnold D. Chronic granulomatous disease presenting as refractory pneumonia in late adulthood. (medscape.com)
  • The frequency of CGD is equal across ethnic and racial groups with disease presentation ranging from infancy into late adulthood. (mhmedical.com)
  • In chronic granulomatous disease (CGD), phagocytic cells are unable to kill certain bacteria and fungi. (health32.com)
  • Roos D, de Boer M. Molecular diagnosis of chronic granulomatous disease. (pediatriconcall.com)
  • Considerations in the Diagnosis of Chronic Granulomatous Disease. (idwiki.org)
  • Chronic granulomatous disease (CGD), also known as Bridges-Good syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. (wikipedia.org)
  • Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. (medlineplus.gov)
  • Background and Purpose: Chronic granulomatous disease (CGD) is an inherited disorder of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. (ac.ir)
  • In contrast to Huntington disease (HD), the major inherited choreiform disorder of adults, the cerebral cortex and corpus callosum are relatively spared. (medscape.com)
  • [ 4 ] However, among chronic granulomatous disease subtypes, the autosomal recessive (AR) forms may be associated with milder disease. (medscape.com)
  • Clinically, dysregulated inflammation by excessive cytokine production due to loss of reactive oxygen species production is suggested as a cause of noninfectious inflammatory problems such as chronic granulomatous disease colitis. (biomedcentral.com)
  • The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. (medlineplus.gov)
  • Chronic pulmonary aspergillosis affects patients without obvious immune compromise, but with an underlying lung condition such as COPD or sarcoidosis, prior or concurrent TB or non-tuberculous mycobacterial disease. (bmj.com)
  • Cases of extrinsic allergic alveolitis and chronic pulmonary aspergillosis have been observed after Aspergillus exposure. (bmj.com)
  • Chronic pulmonary aspergillosis (CPA) presents in a more indolent fashion, usually affecting patients with underlying lung disease, but with no or only subtle generalised immune compromise. (bmj.com)
  • using this information to draw inferences about whether particular vaccines are indicated or whether caution is advised with use of live or non-live vaccines is more complicated and might require consultation with an infectious diseases or immunology specialist. (cdc.gov)
  • Among the most common organisms that cause disease in CGD patients are: Bacteria (particularly those that are catalase-positive) Staphylococcus aureus. (wikipedia.org)
  • Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. (medscape.com)
  • Classically, patients with chronic granulomatous disease will have recurrent bouts of infection due to the decreased capacity of their immune system to fight off disease-causing organisms. (wikipedia.org)
  • People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. (medlineplus.gov)
  • In an attempt to control infection, masses of neutrophils and other immune cells continue to gather at the site of infection, forming large groups of these cells called granulomas, hence the name of the disease. (primaryimmune.org)
  • Rasamsonia sp: An emerging infection amongst chronic granulomatous disease patients. (medscape.com)
  • Because of the history and types of infection, a work-up for immunodeficiency was undertaken and the child was found to have chronic granulomatous disease. (mhmedical.com)
  • Research has shown that poor nutrition and potential starvation compromises the lymphatic system, making the body more vulnerable to infection and disease. (nativeremedies.com)
  • Once the disease progresses to neurologic infection, it is generally fatal within weeks or months. (cdc.gov)
  • The main defect in chronic granulomatous disease (CGD) is a failure of neutrophils, monocytes, macrophages, and eosinophils to mount a respiratory burst and, therefore, to generate superoxide anions and other reactive oxygen species derived from superoxide, such as hydrogen peroxide. (medscape.com)
  • Neutrophils are one type of cell affected by chronic granulomatous disease. (wikidoc.org)
  • Thus, p40 phox binding to PtdIns(3)P is essential for phagocytosis-induced oxidant production in human neutrophils and its absence can be associated with disease. (wustl.edu)
  • Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. (medlineplus.gov)
  • Treatment for autoimmune diseases typically involves managing symptoms and slowing down the progression of the disease. (patientsmedical.com)
  • There is currently no cure for autoimmune diseases, but with proper management and treatment, many people with autoimmune diseases are able to lead healthy and active lives. (patientsmedical.com)
  • For a list of clinical trials in this disease area, please click here . (globalgenes.org)
  • Johnston RB Jr. Clinical aspects of chronic granulomatous disease. (medscape.com)
  • Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. (medscape.com)
  • This section incorporates general content from the Infectious Diseases Society of America policy statement, 2013 IDSA Clinical Practice Guideline for Vaccination of the Immunocompromised Host ( 1 ), to which CDC provided input in November 2011. (cdc.gov)
  • The clinical presentation of Aspergillus lung disease is determined by the interaction between fungus and host. (bmj.com)
  • Asymptomatic colonisation of the respiratory tract needs close monitoring as it can lead to clinical disease especially with ongoing immunosuppression. (bmj.com)
  • Our Agency funds clinical trials testing promising stem cell or gene therapies for currently incurable diseases or disorders to help patients with unmet medical needs. (ca.gov)
  • abstract = "Sporothrix schenckii lymphadenitis was identified in a 33 month old male with X-linked chronic granulomatous disease (CGD). (johnshopkins.edu)
  • The CGD Association of America (CGDAA) was founded in 2019 to advocate for patients and X-linked female CGD carriers with Chronic Granulomatous Disease (CGD). (globalgenes.org)
  • However, defects in autosomal genes may also underlie the disease and cause CGD in both males and females. (medscape.com)
  • By comparing the genes expressed in dogs with newly diagnosed but untreated IMHA versus those expressed in healthy dogs, CHF-funded investigators hope to identify specific genes that are turned on early in disease development and can be used as treatment targets. (akcchf.org)
  • Several subtypes of TBEV cause disease: European, 9. (cdc.gov)
  • When this inflammatory disease affects the lungs, symptoms may include a dry cough, shortness of breath, and wheezing. (healthline.com)
  • If this bacterial disease is in the lungs, symptoms may include a chronic cough, coughing up blood or phlegm, and chest pain. (healthline.com)
  • Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. (medscape.com)
  • Chronic granulomatous disease, one of the primary immunodeficiency syndromes, is characterized by failure of phagocytic capacity due to loss of reactive oxygen species production, as well as formation of granulomas in organs. (biomedcentral.com)
  • Multifocal pneumonia on CT scan in a young boy with chronic granulomatous disease. (mhmedical.com)
  • Serratia marcescens multifocal osteomyelitis in a child with chronic granulomatous disease]. (bvsalud.org)
  • Osteomielitis multifocal por Serratia marcescens en un niño con enfermedad granulomatosa crónica. (bvsalud.org)
  • Microscopic image of the fungus, Aspergillus fumigatus , an organism that commonly causes disease in people with chronic granulomatous disease. (wikidoc.org)
  • Some of the organisms that cause disease in CGD patients are Staphylococcus aureus , Escheria coli , Klebsiella species, Aspergillus species, and Candida species. (wikidoc.org)
  • Of the Aspergillus species, Aspergillus fumigatus seems to be the one that most commonly causes disease. (wikidoc.org)
  • Osteomyelitis and lung abscess due to Aspergillus fumigatus in a chronic granulomatous disease patient', Current Medical Mycology , 2(3), pp. 37-41. (ac.ir)
  • Aspergillus bronchitis may be responsible for persistent respiratory symptoms in patients with Aspergillus detected repeatedly in sputum without evidence of parenchymal Aspergillus disease, especially in patients with bronchiectasis and cystic fibrosis. (bmj.com)
  • Changes in the classification of Aspergillus allergic lung disease have been proposed recently. (bmj.com)
  • Although exposure to Aspergillus conidia through inhalation is common, only a minority of those exposed will develop lung disease. (bmj.com)
  • The underlying cellular mechanism that causes chronic granulomatous disease was discovered in 1967, and research since that time has further elucidated the molecular mechanisms underlying the disease. (wikipedia.org)
  • Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients. (medscape.com)
  • Detección molecular de patógenos entéricos en niños con diarrea en un hospital centinela de vigilancia de rotavirus en Chile. (bvsalud.org)
  • Bernard Babior made key contributions in linking the defect of superoxide production of white blood cells, to the cause of the disease. (wikipedia.org)
  • Acanthocytosis has also been associated with the rare hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) syndrome, a disease of childhood akin to Hallervorden-Spatz disease and a defect in the gene for pantothenate kinase. (medscape.com)
  • Chronic swelling of the lymph nodes in the neck, with the formation of abscesses, is common. (health32.com)
  • Residual NADPH oxidase and survival in chronic granulomatous disease. (medscape.com)
  • D. and infectious disease specialist at Legacy Health System in Oregon. (medicinenet.com)
  • carrier or suspected carrier of infectious disease (Z22. (who.int)
  • The more you understand about primary immunodeficiency (PI), the better you can live with the disease or support others in your life with PI. (primaryimmune.org)
  • Download this chapter from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition . (primaryimmune.org)
  • Thousands of individuals living with primary immunodeficiency diseases, including Chronic Granulomatous Disease (CGD), go undiagnosed. (primaryimmune.org)
  • An essential first step could be to look at how we can integrate mycetoma interventions within primary health care delivery, particularly as part of measures targeting diseases that manifest primarily on the skin. (who.int)
  • Hematopoietic cell transplantation (HCT) is established as a curative treatment for severe chronic granulomatous disease (CGD). (elsevierpure.com)
  • Other individuals have a multitude of the most severe symptoms of end-stage liver disease and a limited chance for survival. (medscape.com)
  • Chronic cough is a common symptom of chronic beryllium disease, which can be misdiagnosed as sarcoidosis unless an immunological test specific to beryllium sensitization is used. (cdc.gov)
  • Ultrafine beryllium number concentration as a possible metric for chronic beryllium disease risk. (cdc.gov)
  • By providing side-by-side measurements of both particle number and mass, this research adds support to the proposal that particle number rather than particle mass may be more reflective of target organ dose and subsequently a more appropriate measure of exposure for chronic beryllium disease. (cdc.gov)
  • Interferon beta-1a, currently in use to treat multiple sclerosis , and interferon alfa-2b are both under investigation as potential treatments for people with COVID-19 coronavirus disease, the deadly respiratory pandemic caused by the SARS -nCoV-2 virus. (medicinenet.com)
  • Intravenous (IV) Therapy At Patients Medical we can create an IV therapy protocol to specifically address your medical and lifestyle needs, from nutrition supplementation and treatment of migraines, to respiratory ailments, chronic conditions, and many more. (patientsmedical.com)
  • A recent joint American Thoracic Society and the European Respiratory Society statement urged policymakers and clinicians to take seriously the role that inhaled vapors, gas, dust, or fumes have in creating occupational respiratory disease. (ajmc.com)
  • The role of occupational factors in most lung disease is under-recognized,' said Paul D. Blanc, MD, MSPH, chief of the Division of Occupational and Environmental Medicine at the University of California San Francisco, in a statement . (ajmc.com)
  • Beryllium is a lightweight metal which causes a chronic granulomatous lung disease among workers who become sensitized to it. (cdc.gov)
  • Specific medical therapies may be applied to many liver diseases in an effort to diminish symptoms and to prevent or forestall the development of cirrhosis. (medscape.com)
  • Additionally, related Corynebacterium species have been found in granulomatous lobular mastitis in humans [6]. (kenyon.edu)
  • It is important for patients with chronic diseases to work closely with their healthcare provider to create a comprehensive treatment plan. (patientsmedical.com)
  • The most likely causes to consider for this patient's condition are reactive airway disease, asthma, an infectious process (viral or bacterial bronchitis, sinusitis, or pneumonia), and chemical irritation (cigarette smoke or air pollution). (cdc.gov)
  • As an example, acute inhalation MRLs may not be protective for health effects that are delayed in development or are' acquired following repeated acute insults, such as hypersensitivity reactions, asthma, or chronic bronchitis. (cdc.gov)
  • Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. (medlineplus.gov)
  • Individuals with chronic granulomatous disease (CGD) are usually healthy at birth. (primaryimmune.org)
  • It is important for individuals with chronic cardiovascular disease to work closely with their healthcare provider to create a comprehensive treatment plan and receive regular check-ups to monitor their condition and adjust treatment as needed. (patientsmedical.com)
  • It is important for individuals with chronic cancer to work closely with their healthcare provider to create a comprehensive treatment plan that considers their individual needs and goals. (patientsmedical.com)
  • In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. (medlineplus.gov)
  • Inflammatory bowel disease (IBD). (healthline.com)
  • This condition was first discovered in 1950 in a series of four boys from Minnesota, and in 1957 it was named "a fatal granulomatosus of childhood" in a publication describing their disease. (wikipedia.org)
  • Symptoms of chronic granulomatous disease usually first appear during early childhood but sometimes not until adolescence. (msdmanuals.com)
  • Lun A, Roesler J, Renz H. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. (medscape.com)
  • citation needed] People with CGD are sometimes infected with organisms that usually do not cause disease in people with normal immune systems. (wikipedia.org)
  • Chronic granulomatous disease (CGD) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly, the superoxide radical) used to kill certain ingested pathogens . (wikidoc.org)
  • Secondary immunodeficiency is acquired and is defined by loss or qualitative deficiency in cellular or humoral immune components that occurs as a result of a disease process or its therapy. (cdc.gov)
  • Laboratory studies can be useful for assessing the effects of a disease or drug on the immune system. (cdc.gov)
  • Certain illnesses have also been known to weaken the immune system such as chicken pox, measles, tuberculosis, chronic hepatitis, and certain types of cancer. (nativeremedies.com)
  • The Immune Deficiency Foundation (IDF) is pleased to provide the presentations from the Special Chronic Granulomatous Disease (CGD) Symposium at the IDF 2015 National Conference online. (primaryimmune.org)
  • The mechanism for granuloma formation remains unclear, but the neutrophilic response persists for an abnormally long period at sources of inflammation and results in chronic inflammation. (biomedcentral.com)
  • Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. (medlineplus.gov)
  • Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. (medlineplus.gov)
  • Approximately 80% of patients with CGD are male, because the main cause of the disease is a mutation in an X-chromosome-linked gene. (medscape.com)
  • CHF-funded investigators have demonstrated the presence of two types of functioning receptors involved in pain signalling in canine macrophages, allowing better study of chronic pain in dogs. (akcchf.org)
  • The gene responsible for this form of the disease has been mapped to the p21.1 region of the X chromosome. (medscape.com)
  • A girl has to inherit the defective gene from both parents in order to have the disease. (health32.com)
  • [ 1 ] Cutaneous disease occurs in 60-70% of patients. (medscape.com)
  • We report here a case of dermal cutaneous alternariosis in a 69-year-old man with X-linked chronic granulomatous disease (CGD). (elsevierpure.com)
  • Hauck F, Heine S, Beier R, Wieczorek K, Müller D, Hahn G. Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases. (medscape.com)
  • pubMedId':'35397696','pubMedUrl':'https://www.ncbi.nlm.nih.gov/pubmed/35397696','publicationId':'844541','title':'Stemming the Tide of Gastrointestinal Chronic Granulomatous Disease. (stanford.edu)
  • Since that year, rarer autosomal dominant disease forms with variable penetrance with or without chromosome 9 abnormalities have also been described. (medscape.com)
  • Examples include congenital immunodeficiency diseases such as X-linked agammaglobulinemia, SCID, and chronic granulomatous disease. (cdc.gov)