A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).
Proteins secreted from an organism which form membrane-spanning pores in target cells to destroy them. This is in contrast to PORINS and MEMBRANE TRANSPORT PROTEINS that function within the synthesizing organism and COMPLEMENT immune proteins. These pore forming cytotoxic proteins are a form of primitive cellular defense which are also found in human LYMPHOCYTES.
Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).
A calcium-dependent pore-forming protein synthesized in cytolytic LYMPHOCYTES and sequestered in secretory granules. Upon immunological reaction between a cytolytic lymphocyte and a target cell, perforin is released at the plasma membrane and polymerizes into transmembrane tubules (forming pores) which lead to death of a target cell.
A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS.
A family of proteins involved in intracellular membrane trafficking. They interact with SYNTAXINS and play important roles in vesicular docking and fusion during EXOCYTOSIS. Their name derives from the fact that they are related to Unc-18 protein, C elegans.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A subfamily of Q-SNARE PROTEINS which occupy the same position as syntaxin 1A in the SNARE complex and which also are most similar to syntaxin 1A in their AMINO ACID SEQUENCE. This subfamily is also known as the syntaxins, although a few so called syntaxins are Qc-SNARES.
Macrophages found in the TISSUES, as opposed to those found in the blood (MONOCYTES) or serous cavities (SEROUS MEMBRANE).
Disorders characterized by proliferation of lymphoid tissue, general or unspecified.
Removal of bone marrow and evaluation of its histologic picture.
The process of losing secretory granules (SECRETORY VESICLES). This occurs, for example, in mast cells, basophils, neutrophils, eosinophils, and platelets when secretory products are released from the granules by EXOCYTOSIS.
Enlargement of the spleen.
Bone marrow-derived lymphocytes that possess cytotoxic properties, classically directed against transformed and virus-infected cells. Unlike T CELLS; and B CELLS; NK CELLS are not antigen specific. The cytotoxicity of natural killer cells is determined by the collective signaling of an array of inhibitory and stimulatory CELL SURFACE RECEPTORS. A subset of T-LYMPHOCYTES referred to as NATURAL KILLER T CELLS shares some of the properties of this cell type.
The engulfment and degradation of cells by other cells.
The type species of LYMPHOCRYPTOVIRUS, subfamily GAMMAHERPESVIRINAE, infecting B-cells in humans. It is thought to be the causative agent of INFECTIOUS MONONUCLEOSIS and is strongly associated with oral hairy leukoplakia (LEUKOPLAKIA, HAIRY;), BURKITT LYMPHOMA; and other malignancies.
Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.
A PREDNISOLONE derivative with similar anti-inflammatory action.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A cyclic undecapeptide from an extract of soil fungi. It is a powerful immunosupressant with a specific action on T-lymphocytes. It is used for the prophylaxis of graft rejection in organ and tissue transplantation. (From Martindale, The Extra Pharmacopoeia, 30th ed).
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
An abundant lysosomal-associated membrane protein that has been found to shuttle between LYSOSOMES; ENDOSOMES; and the PLASMA MEMBRANE. In PLATELETS and T-LYMPHOCYTES it may play a role in the cellular degranulation process.
A semisynthetic derivative of PODOPHYLLOTOXIN that exhibits antitumor activity. Etoposide inhibits DNA synthesis by forming a complex with topoisomerase II and DNA. This complex induces breaks in double stranded DNA and prevents repair by topoisomerase II binding. Accumulated breaks in DNA prevent entry into the mitotic phase of cell division, and lead to cell death. Etoposide acts primarily in the G2 and S phases of the cell cycle.
The phenomenon of target cell destruction by immunologically active effector cells. It may be brought about directly by sensitized T-lymphocytes or by lymphoid or myeloid "killer" cells, or it may be mediated by cytotoxic antibody, cytotoxic factor released by lymphoid cells, or complement.
Immunized T-lymphocytes which can directly destroy appropriate target cells. These cytotoxic lymphocytes may be generated in vitro in mixed lymphocyte cultures (MLC), in vivo during a graft-versus-host (GVH) reaction, or after immunization with an allograft, tumor cell or virally transformed or chemically modified target cell. The lytic phenomenon is sometimes referred to as cell-mediated lympholysis (CML). These CD8-positive cells are distinct from NATURAL KILLER CELLS and NATURAL KILLER T-CELLS. There are two effector phenotypes: TC1 and TC2.
An ERYTHROLEUKEMIA cell line derived from a CHRONIC MYELOID LEUKEMIA patient in BLAST CRISIS.
The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.
Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms.
Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.
An infant during the first month after birth.
Glycoproteins found on the membrane or surface of cells.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. (1/251)

Macrophage activation syndrome (MAS) has been reported in association with many rheumatic diseases, most commonly in systemic juvenile rheumatoid arthritis (sJRA). Clinically, MAS is similar to hemophagocytic lymphohistiocytosis (HLH), a genetic disorder with absent or depressed natural killer (NK) function. We have previously reported that, as in HLH, patients with MAS have profoundly decreased NK activity, suggesting that this abnormality might be relevant to the pathogenesis of the syndrome. Here we examined the extent of NK dysfunction across the spectrum of diseases that comprise juvenile rheumatoid arthritis (JRA). Peripheral blood mononuclear cells (PBMC) were collected from patients with pauciarticular (n = 4), polyarticular (n = 16), and systemic (n = 20) forms of JRA. NK cytolytic activity was measured after co-incubation of PBMC with the NK-sensitive K562 cell line. NK cells (CD56+/T cell receptor [TCR]-alphabeta-), NK T cells (CD56+/TCR-alphabeta+), and CD8+ T cells were also assessed for perforin and granzyme B expression by flow cytometry. Overall, NK cytolytic activity was significantly lower in patients with sJRA than in other JRA patients and controls. In a subgroup of patients with predominantly sJRA, NK cell activity was profoundly decreased: in 10 of 20 patients with sJRA and in only 1 of 20 patients with other JRA, levels of NK activity were below two standard deviations of pediatric controls (P = 0.002). Some decrease in perforin expression in NK cells and cytotoxic T lymphocytes was seen in patients within each of the JRA groups with no statistically significant differences. There was a profound decrease in the proportion of circulating CD56bright NK cells in three sJRA patients, a pattern similar to that previously observed in MAS and HLH. In conclusion, a subgroup of patients with JRA who have not yet had an episode of MAS showed decreased NK function and an absence of circulating CD56bright population, similar to the abnormalities observed in patients with MAS and HLH. This phenomenon was particularly common in the systemic form of JRA, a clinical entity strongly associated with MAS.  (+info)

Cyclosporin neurotoxicity with Epstein-Barr virus-associated hemophagocytic syndrome. (2/251)

In September 2000, a 22-year-old female was admitted to our hospital due to high grade fever, liver enzymes elevation and pancytopenia. Bone marrow aspiration was performed, and hemophagocytosis was present. Epstein-Barr virus (EBV) DNA was positive in her peripheral blood, and we diagnosed the case as EBV-associated hemophagocytic syndrome (EB-VAHS) after excluding other malignancies. The initial therapy including etoposide and dexamethasone was started. As severe leukocytopenia developed, etoposide was stopped and cyclosporin A (CsA) was administered continuously. Four days after administration of CsA, she developed convulsive seizures with loss of consciousness. An MRI demonstrated decreased signal with T1-weighting and high signal with T2-weighting in the subcortical white matter including the posterior lobe. We stopped CsA infusion, and glycerol was administered. Soon the symptom disappeared. When patients developed an episode of convulsive seizure, other diagnostic possibilities were central nervous system (CNS) involvement of hemophagocytosis, EBV encephalitis and acute disseminated encephalomyelitis (ADEM). CsA neurotoxicity must be considered even in the case of EB-VAHS with administration of CsA. As previously reported, Fluid-attenuated Inversion Recovery (FLAIR) imaging improved diagnostic confidence and conspicuity of the T2 hyper intense lesions of CsA neurotoxicity, as well as tacrolimus encephalopathy, typically in the subcortical white matter. Key words; Cyclosporin neurotoxicity; Epstein-Barr virus associated-Hemophagocytic syndrome; Magnetic Resonance Image (MRI).  (+info)

Increased serum HO-1 in hemophagocytic syndrome and adult-onset Still's disease: use in the differential diagnosis of hyperferritinemia. (3/251)

Heme oxygenase-1 (HO-1), an inducible heme-degrading enzyme, is expressed by macrophages and endothelial cells in response to various stresses. Because ferritin synthesis is stimulated by Fe2+, which is a product of heme degradation, we examined the relation between HO-1 and ferritin levels in the serum of patients with hemophagocytic syndrome (HPS), adult-onset Still's disease (ASD), and other diseases that may cause hyperferritinemia. Seven patients with HPS, 10 with ASD, 73 with other rheumatic diseases, 20 with liver diseases, 10 recipients of repeated blood transfusion because of hematological disorders, and 22 healthy volunteers were enrolled. Serum HO-1 and ferritin levels were determined by ELISA. Expression of HO-1 mRNA and protein by peripheral blood mononuclear cells (PBMCs) was determined by real-time PCR and immunocytochemical techniques, respectively. Serum levels of HO-1 were significantly higher in patients with active HPS and ASD than in the other groups (P < 0.01). HO-1 levels were not elevated in patients with other causes of hyperferritinemia but were moderately elevated in patients with dermatomyositis/polymyositis. Among patients with HPS and ASD, serum HO-1 levels correlated closely with serum ferritin levels, and the levels of both returned to normal after therapy had induced remission. Increased expression of HO-1 mRNA was confirmed in PBMCs from some patients with HPS and ASD. Hyperferritinemia correlated closely with increased serum HO-1 in patients with HPS and ASD but not other conditions, indicating that measurement of serum HO-1 and ferritin levels would be useful in the differential diagnosis of hyperferritinemia and perhaps also in monitoring disease activity in HPS and ASD.  (+info)

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? (4/251)

We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100 patients and 5/127 controls (OR, 3.4; 95%CI: 1.15-9.95; p=0.014). A91V is a novel and frequent predisposing factor for childhood ALL.  (+info)

Does systemic-onset juvenile idiopathic arthritis belong under juvenile idiopathic arthritis? (5/251)

'Science is the systematic classification of experience' George Henry Lewes (1817-78), English philosopher, critic, dramatist, scientist. Juvenile idiopathic arthritis (JIA) is prevalent in about 1 in 1000 children. The earliest formal description of this disease was by Sir George Frederick Still in 1897. This work was done when he was a registrar at the Hospital for Sick Children, Great Ormond Street, London. In this initial description of 19 patients he identified three patterns of arthritis, one of which came to be known later as Still's disease [now known as systemic-onset juvenile idiopathic arthritis (SoJIA)]. Over the next few decades it came to be appreciated that one form of arthritis in children is very different and dominated by the presence of systemic manifestations. Over the last two decades several paediatric rheumatologists have come together to classify juvenile arthritis for purposes of better disease identification and research. All along, the systemic form of juvenile arthritis was always recognized as belonging to a distinct group; in fact for several decades (and even now in some countries) the systemic form of juvenile arthritis was referred to as Still's disease. In this article we will attempt to highlight the reasons why we feel that SoJIA is perhaps not best retained in the company of JIA.  (+info)

Epstein-Barr virus LMP1 inhibits the expression of SAP gene and upregulates Th1 cytokines in the pathogenesis of hemophagocytic syndrome. (6/251)

The primary infection of Epstein-Barr virus (EBV) may result in fatal infectious mononucleosis or hemophagocytic syndrome (HPS) in 2 diseases; that is, X-linked lymphoproliferative disorder (XLP) and hemophagocytic lymphohistiocytosis (HLH). XLP is linked to mutations of the SAP/SH2D1A gene with dysregulated T-cell activation in response to EBV infection. Patients with sporadic HLH, however, usually have no mutation of the SAP/SH2D1A gene, and EBV latent membrane protein-1 (LMP1) can up-regulate Th1 cytokines in EBV-infected T cells. Since both diseases share common manifestations of HPS, it is important to clarify whether a cross-talk exists between signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) and LMP1-mediated pathways to explain the common pathogenesis of HPS. In this study, no mutation of the SAP/SH2D1A gene at exon 2/3 was detected in 7 HLH cases. Interestingly, EBV LMP1 could transcriptionally inhibit the expression of SAP/SH2D1A and activate downstream molecules ERK and interferon-gamma (IFN-gamma). LMP1-mediated SAP/ERK/IFN-gamma signals appear to act via the TNF receptor-associated factor (TRAF)2,5/nuclear factor kappaB (NF-kappaB) pathway, since dominant-negative TRAF2/5 and NF-kappaB inhibitor could rescue SAP expression and downregulate IFN-gamma. Although HLH is genetically distinct from XLP, our data suggest that both diseases share a common signal pathway, through either the mutation or LMP1-mediated suppression of the SAP gene, leading to overt T-cell activation and enhanced Th1 cytokine secretion in response to EBV infection.  (+info)

Severe imbalance of IL-18/IL-18BP in patients with secondary hemophagocytic syndrome. (7/251)

Hemophagocytic syndrome (HPS) is characterized by an uncontrolled and poorly understood activation of T-helper 1 (Th-1) lymphocytes and macrophages. We studied 20 patients with HPS secondary to infections, autoimmune disease, lymphoma, or cancer and observed that the concentrations of serum interleukin 18 (IL-18), a strong inducer of Th-1 responses, interferon gamma (IFN-gamma) production, and stimulation of macrophages and natural killer (NK) cells were highly increased in HPS but not in control patients. In contrast, concentrations of its natural inhibitor, the IL-18 binding protein (IL-18BP), were only moderately elevated, resulting in a high level of biologically active free IL-18 in HPS (4.6-fold increase compared with controls; P < .001). Free IL-18 but not IL-12 concentrations significantly correlated with clinical status and the biologic markers of HPS such as anemia (P < .001), hypertriglyceridemia, and hyperferritinemia (P < .01) and also with markers of Th-1 lymphocyte or macrophage activation, such as elevated concentrations of IFN-gamma and soluble IL-2 and tumor necrosis factor alpha (TNF-alpha) receptor concentrations. Despite high IL-18 elevation, in vitro NK-cell cytotoxicity was severely impaired in HPS patients, in part due to NK-cell lymphopenia that was observed in a majority of patients but also secondary to an intrinsic NK-cell functional deficiency. We concluded that a severe IL-18/IL-18BP imbalance results in Th-1 lymphocyte and macrophage activation, which escapes control by NK-cell cytotoxicity and may allow for secondary HPS in patients with underlying diseases.  (+info)

Non-fatal haemophagocytic syndrome in an elderly patient. (8/251)

A frail 78-year-old man presented with lethargy, fever, splenomegaly and pancytopenia. Bone marrow aspirate showed marked haemophagocytosis. A diagnosis of haemophagocytic syndrome secondary to diffuse splenic large B-cell lymphoma was eventually made. Treatment with laparascopic splenectomy was successful. Secondary haemophagocytic syndrome is a rare complication of many common conditions, and is fatal if untreated. A brief literature review is included.  (+info)

Hemophagocytic Lymphohistiocytosis (HLH) is a rare and serious condition characterized by an uncontrolled immune response leading to inflammation and damage in various organs of the body. It occurs when certain immune cells, including lymphocytes and histiocytes (a type of white blood cell), become overactive and start to destroy other blood cells, particularly red blood cells and platelets. This results in symptoms such as fever, enlarged liver and spleen, cytopenia (decreased number of blood cells), and increased levels of inflammatory markers in the body.

HLH can be primary or secondary. Primary HLH is an inherited disorder caused by genetic mutations that affect the immune system's regulation. Secondary HLH, on the other hand, is acquired due to factors such as infections, malignancies, or autoimmune diseases. Treatment for HLH typically involves a combination of chemotherapy, immunosuppressive drugs, and sometimes bone marrow transplantation. Early diagnosis and treatment are crucial for improving outcomes in patients with this condition.

Non-Langerhans cell histiocytosis (NLCH) is a group of rare disorders characterized by the abnormal proliferation and accumulation of histiocytes, which are immune cells that normally function to help fight infection. Unlike Langerhans cell histiocytosis (LCH), where the histiocytes involved are positive for the marker CD1a and the protein S-100, in NLCH, the histiocytes involved do not express these markers.

NLCH includes several distinct clinicopathological entities, such as juvenile xanthogranuloma, Erdheim-Chester disease, and Rosai-Dorfman disease. These conditions can affect various organs of the body, including the skin, bones, lungs, central nervous system, and others. The clinical manifestations, prognosis, and treatment options vary depending on the specific type of NLCH and the extent of organ involvement.

It is important to note that while some cases of NLCH may be self-limited or respond well to treatment, others can be aggressive and potentially life-threatening. Therefore, prompt and accurate diagnosis and management are crucial for optimizing patient outcomes.

Pore-forming cytotoxic proteins are a group of toxins that can create pores or holes in the membranes of cells, leading to cell damage or death. These toxins are produced by various organisms, including bacteria, fungi, and plants, as a defense mechanism or to help establish an infection.

The pore-forming cytotoxic proteins can be divided into two main categories:

1. Membrane attack complex/perforin (MACPF) domain-containing proteins: These are found in many organisms, including humans. They form pores by oligomerizing, or clustering together, in the target cell membrane. An example of this type of toxin is the perforin protein, which is released by cytotoxic T cells and natural killer cells to destroy virus-infected or cancerous cells.
2. Cholesterol-dependent cytolysins (CDCs): These are mainly produced by gram-positive bacteria. They bind to cholesterol in the target cell membrane, forming a prepore structure that then undergoes conformational changes to create a pore. An example of a CDC is alpha-hemolysin from Staphylococcus aureus, which can lyse red blood cells and damage various other cell types.

These pore-forming cytotoxic proteins play a significant role in host-pathogen interactions and have implications for the development of novel therapeutic strategies.

Epstein-Barr virus (EBV) infections, also known as infectious mononucleosis or "mono," is a viral infection that most commonly affects adolescents and young adults. The virus is transmitted through saliva and other bodily fluids, and can cause a variety of symptoms including fever, sore throat, swollen lymph nodes, fatigue, and skin rash.

EBV is a member of the herpesvirus family and establishes lifelong latency in infected individuals. After the initial infection, the virus remains dormant in the body and can reactivate later in life, causing symptoms such as fatigue and swollen lymph nodes. In some cases, EBV infection has been associated with the development of certain types of cancer, such as Burkitt's lymphoma and nasopharyngeal carcinoma.

The diagnosis of EBV infections is typically made based on a combination of clinical symptoms and laboratory tests, such as blood tests that detect the presence of EBV antibodies or viral DNA. Treatment is generally supportive and aimed at alleviating symptoms, as there is no specific antiviral therapy for EBV infections.

Perforin is a protein that plays a crucial role in the immune system's response to virally infected or cancerous cells. It is primarily produced and released by cytotoxic T-cells and natural killer (NK) cells, two types of white blood cells involved in defending the body against infection and disease.

Perforin functions by creating pores or holes in the membrane of target cells, leading to their lysis or destruction. This process allows for the release of cellular contents and the exposure of intracellular antigens, which can then be processed and presented to other immune cells, thereby enhancing the immune response against the pathogen or abnormal cells.

In summary, perforin is a vital component of the immune system's cytotoxic activity, contributing to the elimination of infected or malignant cells and maintaining overall health and homeostasis in the body.

Macrophage Activation Syndrome (MAS) is a severe, life-threatening complication of certain inflammatory diseases, including rheumatic diseases such as systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease (AOSD), and catastrophic antiphospholipid syndrome (CAPS). It is also known as hemophagocytic lymphohistiocytosis (HLH) or secondary HLH.

MAS is characterized by the uncontrolled activation and proliferation of macrophages, which are large white blood cells that play a crucial role in the immune system by engulfing and destroying foreign substances, microbes, and cancer cells. In MAS, these activated macrophages release high levels of inflammatory cytokines, leading to a hyperinflammatory state that can damage multiple organs, including the liver, spleen, kidneys, and central nervous system.

The symptoms of MAS include fever, fatigue, rash, lymphadenopathy (swollen lymph nodes), hepatosplenomegaly (enlarged liver and spleen), coagulopathy (bleeding disorders), and cytopenias (low blood cell counts). The diagnosis of MAS is based on clinical criteria, laboratory tests, and bone marrow aspiration findings. Treatment typically involves high-dose corticosteroids, immunosuppressive agents, and targeted therapies that modulate the immune system. In severe cases, stem cell transplantation may be necessary.

Munc18 proteins, also known as Sec1/Munc18 (SM) proteins, are a family of conserved cofactor proteins that play a crucial role in the regulation of membrane fusion events in intracellular trafficking. They are essential for the priming and docking steps of vesicle fusion with target membranes, particularly in neurotransmitter release at synapses.

Munc18 proteins have a characteristic three-domain structure: an N-terminal domain that interacts with SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) proteins, a central helical domain, and a C-terminal domain. The N-terminal domain of Munc18 proteins binds to the SNARE complex and stabilizes it in a closed conformation, preventing spontaneous fusion of vesicles with target membranes. Upon stimulation, Munc18 proteins undergo conformational changes that allow for the formation of a stable four-helix bundle between the SNARE proteins, leading to membrane fusion.

Mammalian cells express three isoforms of Munc18 proteins: Munc18-1, Munc18-2, and Munc18-3. Munc18-1 is primarily expressed in neurons and plays a critical role in synaptic vesicle exocytosis. Mutations in the gene encoding Munc18-1 have been associated with certain forms of human neurological disorders, such as epilepsy and intellectual disability. Munc18-2 is widely expressed in non-neuronal cells and regulates the fusion of secretory vesicles, while Munc18-3 is primarily expressed in the testis and regulates spermatogenesis.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

Qa-SNARE proteins, also known as R-SNAREs, are a subgroup of SNARE (Soluble NSF Attachment REceptor) proteins that play a crucial role in intracellular membrane fusion events. These proteins contain a conserved Qa-SNARE domain, which is characterized by the presence of a glutamine (Q) residue at a specific position within the SNARE motif.

Qa-SNAREs are typically located on the vesicle membrane and interact with other SNARE proteins on the target membrane to form a stable complex, known as a SNARE complex. This interaction brings the two membranes into close proximity, allowing for the fusion of the membranes and the release of cargo from the vesicle into the target compartment.

Examples of Qa-SNARE proteins include syntaxin 1, syntaxin 2, syntaxin 3, and syntaxin 4, which are involved in various intracellular trafficking pathways, such as neurotransmitter release, endocytosis, and Golgi transport. Mutations or dysregulation of Qa-SNARE proteins have been implicated in several human diseases, including neurological disorders and cancer.

Histiocytes are a type of immune cell that are part of the mononuclear phagocyte system. They originate from monocytes, which are derived from hematopoietic stem cells in the bone marrow. Histiocytes play an important role in the immune system by engulfing and destroying foreign substances, such as bacteria and viruses, as well as removing dead cells and other debris from the body. They can be found in various tissues throughout the body, including the skin, lymph nodes, spleen, and liver.

Histiocytes include several different types of cells, such as macrophages, dendritic cells, and Langerhans cells. These cells have different functions but all play a role in the immune response. For example, macrophages are involved in inflammation and tissue repair, while dendritic cells are important for presenting antigens to T cells and initiating an immune response.

Abnormal accumulations or dysfunction of histiocytes can lead to various diseases, such as histiocytosis, which is a group of disorders characterized by the abnormal proliferation and accumulation of histiocytes in various tissues.

Lymphoproliferative disorders (LPDs) are a group of diseases characterized by the excessive proliferation of lymphoid cells, which are crucial components of the immune system. These disorders can arise from both B-cells and T-cells, leading to various clinical manifestations ranging from benign to malignant conditions.

LPDs can be broadly classified into reactive and neoplastic categories:

1. Reactive Lymphoproliferative Disorders: These are typically triggered by infections, autoimmune diseases, or immunodeficiency states. They involve an exaggerated response of the immune system leading to the excessive proliferation of lymphoid cells. Examples include:
* Infectious mononucleosis (IM) caused by Epstein-Barr virus (EBV)
* Lymph node enlargement due to various infections or autoimmune disorders
* Post-transplant lymphoproliferative disorder (PTLD), which occurs in the context of immunosuppression following organ transplantation
2. Neoplastic Lymphoproliferative Disorders: These are malignant conditions characterized by uncontrolled growth and accumulation of abnormal lymphoid cells, leading to the formation of tumors. They can be further classified into Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL). Examples include:
* Hodgkin lymphoma (HL): Classical HL and nodular lymphocyte-predominant HL
* Non-Hodgkin lymphoma (NHL): Various subtypes, such as diffuse large B-cell lymphoma, follicular lymphoma, mantle cell lymphoma, and Burkitt lymphoma

It is important to note that the distinction between reactive and neoplastic LPDs can sometimes be challenging, requiring careful clinical, histopathological, immunophenotypic, and molecular evaluations. Proper diagnosis and classification of LPDs are crucial for determining appropriate treatment strategies and predicting patient outcomes.

A bone marrow examination is a medical procedure in which a sample of bone marrow, the spongy tissue inside bones where blood cells are produced, is removed and examined. This test is used to diagnose or monitor various conditions affecting blood cell production, such as infections, leukemia, anemia, and other disorders of the bone marrow.

The sample is typically taken from the hipbone (iliac crest) or breastbone (sternum) using a special needle. The procedure may be done under local anesthesia or with sedation to minimize discomfort. Once the sample is obtained, it is examined under a microscope for the presence of abnormal cells, changes in cell size and shape, and other characteristics that can help diagnose specific conditions. Various stains, cultures, and other tests may also be performed on the sample to provide additional information.

Bone marrow examination is an important diagnostic tool in hematology and oncology, as it allows for a detailed assessment of blood cell production and can help guide treatment decisions for patients with various blood disorders.

Cell degranulation is the process by which cells, particularly immune cells like mast cells and basophils, release granules containing inflammatory mediators in response to various stimuli. These mediators include histamine, leukotrienes, prostaglandins, and other chemicals that play a role in allergic reactions, inflammation, and immune responses. The activation of cell surface receptors triggers a signaling cascade that leads to the exocytosis of these granules, resulting in degranulation. This process is important for the immune system's response to foreign invaders and for the development of allergic reactions.

Splenomegaly is a medical term that refers to an enlargement or expansion of the spleen beyond its normal size. The spleen is a vital organ located in the upper left quadrant of the abdomen, behind the stomach and below the diaphragm. It plays a crucial role in filtering the blood, fighting infections, and storing red and white blood cells and platelets.

Splenomegaly can occur due to various underlying medical conditions, including infections, liver diseases, blood disorders, cancer, and inflammatory diseases. The enlarged spleen may put pressure on surrounding organs, causing discomfort or pain in the abdomen, and it may also lead to a decrease in red and white blood cells and platelets, increasing the risk of anemia, infections, and bleeding.

The diagnosis of splenomegaly typically involves a physical examination, medical history, and imaging tests such as ultrasound, CT scan, or MRI. Treatment depends on the underlying cause and may include medications, surgery, or other interventions to manage the underlying condition.

Natural Killer (NK) cells are a type of lymphocyte, which are large granular innate immune cells that play a crucial role in the host's defense against viral infections and malignant transformations. They do not require prior sensitization to target and destroy abnormal cells, such as virus-infected cells or tumor cells. NK cells recognize their targets through an array of germline-encoded activating and inhibitory receptors that detect the alterations in the cell surface molecules of potential targets. Upon activation, NK cells release cytotoxic granules containing perforins and granzymes to induce target cell apoptosis, and they also produce a variety of cytokines and chemokines to modulate immune responses. Overall, natural killer cells serve as a critical component of the innate immune system, providing rapid and effective responses against infected or malignant cells.

Cytophagocytosis is a medical term that refers to the process in which certain types of cells, particularly immune cells like macrophages, engulf and digest other smaller cells or particles. This process helps the body to eliminate foreign substances, cellular debris, and pathogens such as bacteria, viruses, and fungi.

During cytophagocytosis, the macrophage extends its pseudopodia (cytoplasmic extensions) to surround and engulf the target cell or particle, forming a vesicle called a phagosome. The phagosome then fuses with a lysosome, an organelle containing digestive enzymes, which breaks down the contents of the phagosome into smaller molecules that can be used by the macrophage for energy or eliminated as waste products.

Cytophagocytosis is an essential part of the immune system's defense mechanisms and plays a crucial role in maintaining tissue homeostasis and preventing infection and disease.

Medical Definition of "Herpesvirus 4, Human" (Epstein-Barr Virus)

"Herpesvirus 4, Human," also known as Epstein-Barr virus (EBV), is a member of the Herpesviridae family and is one of the most common human viruses. It is primarily transmitted through saliva and is often referred to as the "kissing disease."

EBV is the causative agent of infectious mononucleosis (IM), also known as glandular fever, which is characterized by symptoms such as fatigue, sore throat, fever, and swollen lymph nodes. The virus can also cause other diseases, including certain types of cancer, such as Burkitt's lymphoma, Hodgkin's lymphoma, and nasopharyngeal carcinoma.

Once a person becomes infected with EBV, the virus remains in the body for the rest of their life, residing in certain white blood cells called B lymphocytes. In most people, the virus remains dormant and does not cause any further symptoms. However, in some individuals, the virus may reactivate, leading to recurrent or persistent symptoms.

EBV infection is diagnosed through various tests, including blood tests that detect antibodies against the virus or direct detection of the virus itself through polymerase chain reaction (PCR) assays. There is no cure for EBV infection, and treatment is generally supportive, focusing on relieving symptoms and managing complications. Prevention measures include practicing good hygiene, avoiding close contact with infected individuals, and not sharing personal items such as toothbrushes or drinking glasses.

Pancytopenia is a medical condition characterized by a reduction in the number of all three types of blood cells in the peripheral blood: red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia). This condition can be caused by various underlying diseases, including bone marrow disorders, viral infections, exposure to toxic substances or radiation, vitamin deficiencies, and certain medications. Symptoms of pancytopenia may include fatigue, weakness, increased susceptibility to infections, and easy bruising or bleeding.

Methylprednisolone is a synthetic glucocorticoid drug, which is a class of hormones that naturally occur in the body and are produced by the adrenal gland. It is often used to treat various medical conditions such as inflammation, allergies, and autoimmune disorders. Methylprednisolone works by reducing the activity of the immune system, which helps to reduce symptoms such as swelling, pain, and redness.

Methylprednisolone is available in several forms, including tablets, oral suspension, and injectable solutions. It may be used for short-term or long-term treatment, depending on the condition being treated. Common side effects of methylprednisolone include increased appetite, weight gain, insomnia, mood changes, and increased susceptibility to infections. Long-term use of methylprednisolone can lead to more serious side effects such as osteoporosis, cataracts, and adrenal suppression.

It is important to note that methylprednisolone should be used under the close supervision of a healthcare provider, as it can cause serious side effects if not used properly. The dosage and duration of treatment will depend on various factors such as the patient's age, weight, medical history, and the condition being treated.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Cyclosporine is a medication that belongs to a class of drugs called immunosuppressants. It is primarily used to prevent the rejection of transplanted organs, such as kidneys, livers, and hearts. Cyclosporine works by suppressing the activity of the immune system, which helps to reduce the risk of the body attacking the transplanted organ.

In addition to its use in organ transplantation, cyclosporine may also be used to treat certain autoimmune diseases, such as rheumatoid arthritis and psoriasis. It does this by suppressing the overactive immune response that contributes to these conditions.

Cyclosporine is available in capsule, oral solution, and injectable forms. Common side effects of the medication include kidney problems, high blood pressure, tremors, headache, and nausea. Long-term use of cyclosporine can also increase the risk of certain types of cancer and infections.

It is important to note that cyclosporine should only be used under the close supervision of a healthcare provider, as it requires regular monitoring of blood levels and kidney function.

Ferritin is a protein in iron-metabolizing cells that stores iron in a water-soluble form. It is found inside the cells (intracellular) and is released into the bloodstream when the cells break down or die. Measuring the level of ferritin in the blood can help determine the amount of iron stored in the body. High levels of ferritin may indicate hemochromatosis, inflammation, liver disease, or other conditions. Low levels of ferritin may indicate anemia, iron deficiency, or other conditions.

Lysosome-Associated Membrane Protein 1 (LAMP-1) is a type I transmembrane protein that is heavily glycosylated and primarily localized to the limiting membrane of lysosomes. It is one of the most abundant proteins in the lysosomal membrane, making up approximately 50% of its total protein mass. LAMP-1 plays a crucial role in maintaining the integrity and stability of the lysosomal membrane by preventing lysosomal enzyme leakage into the cytosol. It also participates in various cellular processes, including autophagy, cell death, and antigen presentation.

LAMP-1 is often used as a marker for late endosomes and lysosomes due to its specific localization in these organelles. The protein contains several structural features that are important for its function, such as a large luminal domain with multiple glycosylation sites, a transmembrane domain, and a short cytoplasmic tail. The cytoplasmic tail interacts with various proteins involved in intracellular trafficking, membrane fusion, and cytoskeletal organization, which contributes to the proper functioning of lysosomes and other related organelles.

Etoposide is a chemotherapy medication used to treat various types of cancer, including lung cancer, testicular cancer, and certain types of leukemia. It works by inhibiting the activity of an enzyme called topoisomerase II, which is involved in DNA replication and transcription. By doing so, etoposide can interfere with the growth and multiplication of cancer cells.

Etoposide is often administered intravenously in a hospital or clinic setting, although it may also be given orally in some cases. The medication can cause a range of side effects, including nausea, vomiting, hair loss, and an increased risk of infection. It can also have more serious side effects, such as bone marrow suppression, which can lead to anemia, bleeding, and a weakened immune system.

Like all chemotherapy drugs, etoposide is not without risks and should only be used under the close supervision of a qualified healthcare provider. It is important for patients to discuss the potential benefits and risks of this medication with their doctor before starting treatment.

Immunologic cytotoxicity refers to the damage or destruction of cells that occurs as a result of an immune response. This process involves the activation of immune cells, such as cytotoxic T cells and natural killer (NK) cells, which release toxic substances, such as perforins and granzymes, that can kill target cells.

In addition, antibodies produced by B cells can also contribute to immunologic cytotoxicity by binding to antigens on the surface of target cells and triggering complement-mediated lysis or antibody-dependent cellular cytotoxicity (ADCC) by activating immune effector cells.

Immunologic cytotoxicity plays an important role in the body's defense against viral infections, cancer cells, and other foreign substances. However, it can also contribute to tissue damage and autoimmune diseases if the immune system mistakenly targets healthy cells or tissues.

Cytotoxic T-lymphocytes, also known as CD8+ T cells, are a type of white blood cell that plays a central role in the cell-mediated immune system. They are responsible for identifying and destroying virus-infected cells and cancer cells. When a cytotoxic T-lymphocyte recognizes a specific antigen presented on the surface of an infected or malignant cell, it becomes activated and releases toxic substances such as perforins and granzymes, which can create pores in the target cell's membrane and induce apoptosis (programmed cell death). This process helps to eliminate the infected or malignant cells and prevent the spread of infection or cancer.

K562 cells are a type of human cancer cell that are commonly used in scientific research. They are derived from a patient with chronic myelogenous leukemia (CML), a type of cancer that affects the blood and bone marrow.

K562 cells are often used as a model system to study various biological processes, including cell signaling, gene expression, differentiation, and apoptosis (programmed cell death). They are also commonly used in drug discovery and development, as they can be used to test the effectiveness of potential new therapies against cancer.

K562 cells have several characteristics that make them useful for research purposes. They are easy to grow and maintain in culture, and they can be manipulated genetically to express or knock down specific genes. Additionally, K562 cells are capable of differentiating into various cell types, such as red blood cells and megakaryocytes, which allows researchers to study the mechanisms of cell differentiation.

It's important to note that while K562 cells are a valuable tool for research, they do not fully recapitulate the complexity of human CML or other cancers. Therefore, findings from studies using K562 cells should be validated in more complex model systems or in clinical trials before they can be translated into treatments for patients.

Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.

Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.

Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.

Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.

Hematopoietic Stem Cell Transplantation (HSCT) is a medical procedure where hematopoietic stem cells (immature cells that give rise to all blood cell types) are transplanted into a patient. This procedure is often used to treat various malignant and non-malignant disorders affecting the hematopoietic system, such as leukemias, lymphomas, multiple myeloma, aplastic anemia, inherited immune deficiency diseases, and certain genetic metabolic disorders.

The transplantation can be autologous (using the patient's own stem cells), allogeneic (using stem cells from a genetically matched donor, usually a sibling or unrelated volunteer), or syngeneic (using stem cells from an identical twin).

The process involves collecting hematopoietic stem cells, most commonly from the peripheral blood or bone marrow. The collected cells are then infused into the patient after the recipient's own hematopoietic system has been ablated (or destroyed) using high-dose chemotherapy and/or radiation therapy. This allows the donor's stem cells to engraft, reconstitute, and restore the patient's hematopoietic system.

HSCT is a complex and potentially risky procedure with various complications, including graft-versus-host disease, infections, and organ damage. However, it offers the potential for cure or long-term remission in many patients with otherwise fatal diseases.

Immunosuppressive agents are medications that decrease the activity of the immune system. They are often used to prevent the rejection of transplanted organs and to treat autoimmune diseases, where the immune system mistakenly attacks the body's own tissues. These drugs work by interfering with the immune system's normal responses, which helps to reduce inflammation and damage to tissues. However, because they suppress the immune system, people who take immunosuppressive agents are at increased risk for infections and other complications. Examples of immunosuppressive agents include corticosteroids, azathioprine, cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

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).

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

"Familial Hemophagocytic Lymphohistiocytosis". Hemophagocytic Lymphohistiocytosis, Familial. PMID 20301617. NBK1444. Archived ... In hematology, hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), ... Lymphohistiocytosis,+Hemophagocytic at the U.S. National Library of Medicine Medical Subject Headings (MeSH) Ponnatt, Tanya ... "Familial hemophagocytic lymphohistiocytosis: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 2021-01-25. ...
HF1 Hemophagocytic lymphohistiocytosis, familial, 2; 603553; PRF1 Hemophagocytic lymphohistiocytosis, familial, 3; 608898; ... UNC13D Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11 Hemophilia B; 306900; F9 Hemorrhagic diathesis due to \' ...
Hemophagocytic lymphohistiocytosis Once the acute symptoms of an initial infection disappear, they often do not return. But ... Marsh RA (2017). "Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis". Frontiers in Immunology. 8: 1902. doi:10.3389/ ...
Cheloff AZ, Al-Samkari H (July 2020). "Emapalumab for the treatment of hemophagocytic lymphohistiocytosis". Drugs of Today. 56 ... Emapalumab is used to treat primary hemophagocytic lymphohistiocytosis (HLH) with refractory, recurrent or progressive disease ... "FDA approves emapalumab for hemophagocytic lymphohistiocytosis". U.S. Food and Drug Administration (FDA). 20 November 2018. ... "FDA Approves Gamifant (emapalumab-lzsg), the First and Only Treatment Indicated for Primary Hemophagocytic Lymphohistiocytosis ...
Marsh RA (2017). "Epstein-Barr virus and hemophagocytic lymphohistiocytosis". Frontiers in Immunology. 8: 1902. doi:10.3389/ ... EBV has also been implicated in several other diseases, including Burkitt's lymphoma, hemophagocytic lymphohistiocytosis, ... hemophagocytic lymphohistiocytosis, and Hodgkin's lymphoma; non-lymphoid malignancies such as gastric cancer and nasopharyngeal ...
It is also used for hemophagocytic lymphohistiocytosis. It is used by mouth or injection into a vein. Side effects are very ... Yildiz H, Van Den Neste E, Defour JP, Danse E, Yombi JC (January 2020). "Adult haemophagocytic lymphohistiocytosis: a Review". ...
Perforin deficiency results in the commonly fatal disorder familial hemophagocytic lymphohistiocytosis (FHL or HLH). This ... Verbsky JW, Grossman WJ (2006). "Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future ...
His brother, William, was dying from hemophagocytic lymphohistiocytosis; his only chance at living was a bone marrow transplant ...
Wang Y, Wang Z (January 2017). "Treatment of hemophagocytic lymphohistiocytosis". Current Opinion in Hematology. 24 (1): 54-58 ... Wysocki CA (December 2017). "Comparing hemophagocytic lymphohistiocytosis in pediatric and adult patients". Current Opinion in ... Marsh RA (2017). "Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis". Frontiers in Immunology. 8: 1902. doi:10.3389/ ... "The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and ...
2001). "Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis". Am. J. Hum. Genet. 68 (3): 590-7. ... Homozygous inheritance of defective PRF1 alleles result in the development of familial hemophagocytic lymphohistiocytosis type ... 1999). "Perforin gene defects in familial hemophagocytic lymphohistiocytosis". Science. 286 (5446): 1957-9. doi:10.1126/science ... 2002). "Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis". J. Med. Genet. 38 (9): 643- ...
2011). "Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset ... 2008). "Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children". J. Pediatr. Hematol. Oncol. 30 (12): 871-6. ... Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3. GRCh38: Ensembl release 89: ... 2008). "Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile ...
Anthony Johnson, 38, American mixed martial artist, hemophagocytic lymphohistiocytosis. Golam Mostafa Khan, 82, Bangladeshi ...
Cheong died from hemophagocytic lymphohistiocytosis on 27 February 2016. He was 44. Chong, Jin Hun. "PUC managing director ...
2012). "Hemophagocytic lymphohistiocytosis can mimic the superior vena cava syndrome". J Pediatr Hematol Oncol. 34 (4): 152-154 ... reported enlarged cervical lymph nodes associated with hemophagocytic lymphohistiocytosis as the cause of internal jugular vein ...
... they develop hemophagocytic lymphohistiocytosis, which may damage organs and body tissues. People with Griscelli syndrome type ...
Familial hemophagocytic lymphohistiocytosis, an autosomal recessive primary immunodeficiency, is another example. Low blood ...
It is part of the presentation of hemophagocytic lymphohistiocytosis and Macrophage activation syndrome. It has also been seen ... "Hemophagocytic Syndromes and Infection". Satturwar, Swati; Fowkes, Mary; Farver, Carol; Wilson, Allecia M.; Eccher, Albino; ...
January 2003). "Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis". Human ...
For example, in hemophagocytic lymphohistiocytosis (HLH) there is marked inappropriate and ineffective T cell activation that ... "Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol". Blood. 118 (17 ... Familial hemophagocytic syndrome Aplastic anemia Gaucher's disease Metastatic carcinoma of bone Multiple Myeloma Overwhelming ... leads to an increased hemophagocytic activity. The T cell activated macrophages engulf erythrocytes, leukocytes, platelets, as ...
Familial hemophagocytic lymphohistiocytosis, an autosomal recessive primary immunodeficiency, is another example. Pancytopenia ...
NI-0501, an anti-IFNγ antibody, is in development for hemophagocytic lymphohistiocytosis. A phase II/III trial began in 2013 ... "Novimmune's NI-0501 Granted Breakthrough Therapy Designation by US FDA for Treatment of Patients With Primary Hemophagocytic ... to Investigate the Safety and Efficacy of an Anti-IFNγ mAb in Children Affected by Primary Haemophagocytic Lymphohistiocytosis ... Lymphohistiocytosis (HLH) - FierceBiotech". www.fiercebiotech.com. "Novimmune SA: Private Company Information - Bloomberg". www ...
Mutations in this gene are associated with Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative ...
In 2018, the FDA required a new warning for the risk of hemophagocytic lymphohistiocytosis. This serious reaction can occur ...
"In humans, loss of perforin function leads to a syndrome called familial hemophagocytic lymphohistiocytosis […]". This syndrome ...
Hemophagocytic lymphohistiocytosis Peutz-Jeghers syndrome GRCh38: Ensembl release 89: ENSG00000135604 - Ensembl, May 2017 ... "Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in ... "Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese ... "Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, ...
... mutation in a patient was associated with a recurrent inflammatory syndrome resembling hemophagocytic lymphohistiocytosis. ...
Hyperinflammatory syndromes such as hemophagocytic lymphohistiocytosis (HLH) may have similar symptoms and are on the ...
Affected individuals may develop liver, lung or kidney failure, seizures and hemophagocytic lymphohistiocytosis (HLH) upon ...
"Intravascular Large B-cell Lymphoma Associated with Systemic and Central Nervous System Hemophagocytic Lymphohistiocytosis: A ... Unlike the classical and cutaneous variants, the hemophagocytic syndrome-associated variant presents with the hemophagocytic ... Komeno Y, Akiyama M, Okochi Y, Tokuda H, Abe K, Iihara K, Ryu T (2019). "Hemophagocytic Syndrome-Associated Variant of ... Rituximab may improve the latter situation.[citation needed] The hemophagocytic syndrome-associated variant of IVBCL is a very ...
... hemophagocytic lymphohistiocytosis (HLH). The incidence of MAS is unknown as there is a wide spectrum of clinical ...
"Familial Hemophagocytic Lymphohistiocytosis". Hemophagocytic Lymphohistiocytosis, Familial. PMID 20301617. NBK1444. Archived ... In hematology, hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), ... Lymphohistiocytosis,+Hemophagocytic at the U.S. National Library of Medicine Medical Subject Headings (MeSH) Ponnatt, Tanya ... "Familial hemophagocytic lymphohistiocytosis: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 2021-01-25. ...
Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells ( ... HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3. *HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT ... medlineplus.gov/genetics/condition/familial-hemophagocytic-lymphohistiocytosis/ Familial hemophagocytic lymphohistiocytosis. ... Approximately 40 to 60 percent of cases of familial hemophagocytic lymphohistiocytosis are caused by mutations in the PRF1 or ...
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease of normal but overactive histiocytes and ... encoded search term (Lymphohistiocytosis (Hemophagocytic Lymphohistiocytosis)) and Lymphohistiocytosis (Hemophagocytic ... Secondary hemophagocytic lymphohistiocytosis (ie, acquired hemophagocytic lymphohistiocytosis) occurs after strong immunologic ... Lymphohistiocytosis (Hemophagocytic Lymphohistiocytosis). Updated: Feb 26, 2021 * Author: Robert A Schwartz, MD, MPH; Chief ...
FIGURE 1. Timeline of events surrounding the illness of a woman with fatal dengue-associated hemophagocytic lymphohistiocytosis ... Fatal Hemophagocytic Lymphohistiocytosis Associated with Locally Acquired Dengue Virus Infection - New Mexico and Texas, 2012. ... Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal clinical syndrome that can be acquired following dengue virus ... Abbreviations: PCP = primary care physician; WNV = West Nile virus; HLH = hemophagocytic lymphohistiocytosis; DENV-3 = dengue ...
Acute liver failure secondary to severe systemic disease from fatal hemophagocytic lymphohistiocytosis: Case report and ... Core tip: This work systematically reviews liver disease in hemophagocytic lymphohistiocytosis (HLH), proposes ... Acute liver failure secondary to severe systemic disease from fatal hemophagocytic lymphohistiocytosis: Case report and ... Acute liver failure secondary to severe systemic disease from fatal hemophagocytic lymphohistiocytosis: Case report and ...
p class=first id=d5242245e263,Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition characterized by a ... Hemophagocytic Lymphohistiocytosis Caused by a Severe Epstein-Barr Virus Infection in a Young Patient Presenting With Hiccups. ... Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition characterized by a state of hyperinflammation. Blood ... Recommendations for the management of hemophagocytic lymphohistiocytosis in adults. Paul La Rosée, AnnaCarin Horne, Melissa ...
Hemophagocytic Lymphohistiocytosis (HLH) is a rapidly progressing, hyperinflammatory condition in which activated T cells and ... Hemophagocytic Lymphohistiocytosis (HLH) is a rapidly progressing, hyperinflammatory condition in which activated T cells and ... Over 75% of Familial Hemophagocytic Lymphohistiocytosis (FHL) cases can be attributed to pathogenic variants in one of six ... Hemophagocytic Lymphohistiocytosis, Familial, 2. AR. 603553. Hemophagocytic Lymphohistiocytosis, Familial, 3. AR. 608898. ...
Timely diagnosis and treatment of hemophagocytic lymphohistiocytosis is critical in this often-fatal disease, but guidelines ... Table 3. Diagnostic Criteria of Hemophagocytic Lymphohistiocytosis (HLH) Molecular diagnosis of HLH or the presence of at least ... Hemophagocytic lymphohistiocytosis (HLH) is a frequently fatal and likely underdiagnosed disease involving a final common ... The first reported case of hemophagocytic lymphohistiocytosis (HLH) was described in 1952 by Farquhar and Claireaux,[1] who ...
databases for immunodeficiency-causing variations ...
Pathophysiology and epidemiology of hemophagocytic lymphohistiocytosis. Hematology 2015;2015:177-82.. OpenUrlAbstract/FREE Full ... Hemophagocytic lymphohistiocytosis and miliary tuberculosis in a previously healthy individual: a case report. J Med Case Rep ... Secondary hemophagocytic lymphohistiocytosis: an unusual complication in disseminated Mycobacterium tuberculosis. Shan Kai Ing ... Secondary hemophagocytic lymphohistiocytosis: an unusual complication in disseminated Mycobacterium tuberculosis. Shan Kai Ing ...
The frequency of secondary hemophagocytic lymphohistiocytosis among total hospitalized patients during this period was 0.05% ( ... a total of 18 children 2 weeks-72 months of age were diagnosed as having secondary hemophagocytic lymphohistiocytosis. ... Secondary Hemophagocytic Lymphohistiocytosis in Turkish Children. View/. Open. 2-Secondary hemophagocytic lymphohistiocytosis ...
Hemophagocytic Lymphohistiocytosis (HLH) is a rare, hyperinflammatory syndrome due to pathologic immune activation. HLH in the ... Effects of Hemophagocytic Lymphohistiocytosis in Newborns. Kimberly C Kullmann* *Correspondence: Kimberly C Kullmann, ... Hemophagocytic Lymphohistiocytosis (HLH) is a rare, hyperinflammatory syndrome due to pathologic immune activation. HLH in the ... Hemophagocytic lymphohistiocytosis: an update on pathogenesis, diagnosis, and therapy. Best Pract Res Clin Rheumatol. 2020;34(4 ...
Objective: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder which develops as a result of cytokine storm syndrome ... Hemophagocytic lymphohistiocytosis is classified as familial (primary/genetic) and secondary (acquired) where an underlying ...
The frequency of secondary hemophagocytic lymphohistiocytosis among total hospitalized patients during this period was 0.05% ( ... a total of 18 children 2 weeks-72 months of age were diagnosed as having secondary hemophagocytic lymphohistiocytosis. ... Secondary Hemophagocytic Lymphohistiocytosis in Turkish Children. View/. Open. 2-Secondary hemophagocytic lymphohistiocytosis ...
Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening disease process resulting from uncontrolled ...
Hemophagocytic Lymphohistiocytosis (HLH) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD ... Hemophagocytic lymphohistiocytosis can be diagnosed if there is a mutation in a known causative gene or if at least 5 of 8 ... Hemophagocytic lymphohistiocytosis (HLH) is uncommon. It affects mostly infants < 18 months but can occur at any age. It ... Treatment for hemophagocytic lymphohistiocytosis should be started if the disorder is suspected, even if not all diagnostic ...
... and non-malignancy-associated secondary hemophagocytic lymphohistiocytosis (HLH) are unclear. Here, we describe the clinical ... Table 2 Results of univariate analysis of prognostic factors of malignancy-associated hemophagocytic lymphohistiocytosis (HLH) ... Table 1 Clinical features of malignancy-associated hemophagocytic lymphohistiocytosis (M-HLH) and non-malignancy-associated ... Table 3 Results of multivariate analysis of prognostic factors of malignancy-associated hemophagocytic lymphohistiocytosis (HLH ...
Fabrizio De Benedetti: Hyperinflammation: hemophagocytic lymphohistiocytosis and macrophage activation syndrome. *Home. * ... The webinar covers clinical presentations and laboratory features of hyper-inflammation with a focus on hemophagocytic ... lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS). Pathogenic mechanisms and the involvement of cytokine ...
Hemophagocytic Lymphohistiocytosis Market: Introduction. *Hemophagocytic lymphohistiocytosis is a rare disease in which the ... Global Hemophagocytic Lymphohistiocytosis Market: Research Scope. Global Hemophagocytic Lymphohistiocytosis Market, by ... www.transparencymarketresearch.com/hemophagocytic-lymphohistiocytosis-market.html. *The global hemophagocytic ... Restraints of Hemophagocytic Lymphohistiocytosis Market. *Unavailability of treatment in developing counties may hamper the ...
... , Kelesidis T, Humphries R, Terashita D ... has published an article entitled(Young Male with Secondary Acute Hemophagocytic Lymphohistiocytosis) & referenced following ... Epstein-Barr virus-associated hemo- phagocytic lymphohistiocytosis in Los Angeles County. Author(s): Kelesidis T, Humphries R, ... Data on Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH) in adults in the United States remain very ...
Fabrizio De Benedetti: Hyperinflammation: hemophagocytic lymphohistiocytosis and macrophage activation syndrome. *Home. * ... The webinar covers clinical presentations and laboratory features of hyper-inflammation with a focus on hemophagocytic ... lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS). Pathogenic mechanisms and the involvement of cytokine ...
关键词: hemophagocytic lymphohistiocytosis, liver dysfunction Abstract: HEMOPHAGOCYTIC lymphohistiocytosis (HLH) is an aggressive ... How I treat hemophagocytic lymphohistiocytosis. Blood 2011; 118: 4041-52. 7.. YT, Sheng WH, Lin BH, et al. Causes, clinical ... Hemophagocytic lymphohistiocytosis. Paediatr Child Health 2008; 18: 136-40. 3.. E, Cetica V, Piccin A, et al. Familial ... A Hemophagocytic Lymphohistiocytosis Patient Initiated with Prominent Liver Dysfunction: a Case Report Ming-jun Zhang, Yu-lan ...
Hemophagocytic lymphohistiocytosis (hemophagocytic syndrome, HLH) is a life-threatening hyperinflammatory condition associated ... Clinical case of hemophagocytic lymphohistiocytosis: rare or undiagnosed syndrome? Authors. * O. B. Yaremenko Bogomolets ... Larroche, C. (2012). Hemophagocytic lymphohistiocytosis in adults: diagnosis and treatment. Joint bone spine, 79(4), 356-361. ... Clinical case of hemophagocytic lymphohistiocytosis: rare or undiagnosed syndrome?. Zaporozhye Med J [Internet]. 2023Feb.15 [ ...
Hemophagocytic lymphohistiocytosis complicating invasive pneumococcal disease: A pediatric case report. Mitsuru Tsuge, Machiko ... Hemophagocytic lymphohistiocytosis complicating invasive pneumococcal disease: A pediatric case report. BMC Pediatrics. 2020 ... Hemophagocytic lymphohistiocytosis complicating invasive pneumococcal disease : A pediatric case report. In: BMC Pediatrics. ... Hemophagocytic lymphohistiocytosis complicating invasive pneumococcal disease: A pediatric case report. / Tsuge, Mitsuru; ...
Hemophagocytic lymphohistiocytosis (HLH) is a uncommon systemic inflammatory symptoms that results. Posted on May 16, 2017. by ... Hemophagocytic lymphohistiocytosis (HLH) is a uncommon systemic inflammatory symptoms that results from unrestrained immune ...
Market Size of Hemophagocytic Lymphohistiocytosis (HLH) in 7MM countries. *Market Size of Hemophagocytic Lymphohistiocytosis ( ... Hemophagocytic Lymphohistiocytosis (HLH) - Market Outlook. This segment of the Hemophagocytic Lymphohistiocytosis (HLH) report ... Hemophagocytic Lymphohistiocytosis (HLH) - Market Analysis. The Hemophagocytic Lymphohistiocytosis (HLH) market outlook of the ... Hemophagocytic Lymphohistiocytosis (HLH) - Disease Understanding and Treatment Algorithm. Hemophagocytic Lymphohistiocytosis ( ...
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, genetically heterogeneous autosomal recessive immune disorder that ... N2 - Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, genetically heterogeneous autosomal recessive immune disorder ... AB - Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, genetically heterogeneous autosomal recessive immune disorder ... abstract = "Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, genetically heterogeneous autosomal recessive immune ...
  • The webinar covers clinical presentations and laboratory features of hyper-inflammation with a focus on hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS). (iuis.org)
  • Hematologic complications of KD include hemophagocytic syndrome (HLH) 2) and macrophage activation syndrome (MAS). (e-cep.org)
  • 2 Please see the Important Safety Information section below, including Boxed WARNINGS for Abecma regarding Cytokine Release Syndrome (CRS), Neurologic Toxicities (NT), Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS), and Prolonged Cytopenia. (drugs.com)
  • Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study]. (bvsalud.org)
  • This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoietic stem cell transplantation (Allo-HSCT). (biomedcentral.com)
  • citation needed] The five subtypes of FHL are each associated with a specific gene: FHL1: HPLH1 FHL2: PRF1 (Perforin) FHL3: UNC13D (Munc13-4) FHL4: STX11 (Syntaxin 11) FHL5: STXBP2 (Syntaxin binding protein 2)/UNC18-2 Nearly half of the cases of type 2 familial hemophagocytic lymphohistiocytosis are due to bi-allelic PRF1 mutations. (wikipedia.org)
  • Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). (medlineplus.gov)
  • The brain may also be affected in familial hemophagocytic lymphohistiocytosis. (medlineplus.gov)
  • In addition to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and tissues. (medlineplus.gov)
  • Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become apparent during infancy, although occasionally they appear later in life. (medlineplus.gov)
  • Without treatment, most people with familial hemophagocytic lymphohistiocytosis survive only a few months. (medlineplus.gov)
  • Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide. (medlineplus.gov)
  • Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. (medlineplus.gov)
  • Approximately 40 to 60 percent of cases of familial hemophagocytic lymphohistiocytosis are caused by mutations in the PRF1 or UNC13D genes. (medlineplus.gov)
  • The gene mutations that cause familial hemophagocytic lymphohistiocytosis impair the body's ability to regulate the immune system. (medlineplus.gov)
  • Cetica V, Pende D, Griffiths GM, Arico M. Molecular basis of familial hemophagocytic lymphohistiocytosis. (medlineplus.gov)
  • Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (medlineplus.gov)
  • The first reported case of hemophagocytic lymphohistiocytosis (HLH) was described in 1952 by Farquhar and Claireaux, [ 1 ] who called the disease familial hemophagocytic reticulosis and described it as a rare familial disorder characterized by a proliferation of histiocytes in solid organs and phagocytosis of blood cells. (medscape.com)
  • Familial hemophagocytic lymphohistiocytosis may present during adulthood: Clinical and genetic features of a small series. (cams.cn)
  • Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, genetically heterogeneous autosomal recessive immune disorder that results when the critical regulatory pathways that mediate immune defense mechanisms and the natural termination of immune/inflammatory responses are disrupted or overwhelmed. (nebraska.edu)
  • Secondary hemophagocytic lymphohistiocytosis (ie, acquired hemophagocytic lymphohistiocytosis) occurs after strong immunologic activation, such as that which can occur with systemic infection, immunodeficiency, or underlying malignancy. (medscape.com)
  • Between January 1998 and January 2005, a total of 18 children 2 weeks-72 months of age were diagnosed as having secondary hemophagocytic lymphohistiocytosis. (hacettepe.edu.tr)
  • The frequency of secondary hemophagocytic lymphohistiocytosis among total hospitalized patients during this period was 0.05% (18 of 34,250). (hacettepe.edu.tr)
  • Hemophagocytic lymphohistiocytosis is classified as familial (primary/genetic) and secondary (acquired) where an underlying disease is present. (ogu.edu.tr)
  • The differences between the clinical characteristics and survival time in malignancy- and non-malignancy-associated secondary hemophagocytic lymphohistiocytosis (HLH) are unclear. (biomedcentral.com)
  • Clinical case of hemophagocytic lymphohistiocytosis: rare or undiagnosed syndrome? (edu.ua)
  • Genetics and pathogenesis of hemophagocytic lymphohistiocytosis. (edu.ua)
  • In HLH-94, the first prospective international treatment study for hemophagocytic lymphohistiocytosis (HLH), diagnosis was based on five criteria (fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, and hemophagocytosis). (scienceopen.com)
  • Advances in hemophagocytic lymphohistiocytosis: Pathogenesis, early diagnosis/ differential diagnosis, and treatment. (cams.cn)
  • In November 2018, Novimmune SA received the FDA approval for GAMIFANT, monoclonal antibody binding and neutralizing interferon gamma, indicated for the treatment of hemophagocytic lymphohistiocytosis in adults and pediatric patients. (dailybn.com)
  • Epstein-Barr virus-asso- ciated hemophagocytic lymphohistiocytosis: A retrospective study of 78 pediatric cases in mainland of China. (cams.cn)
  • S. Approach to hemophagocytic syndromes. (cams.cn)
  • In hematology, hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. (wikipedia.org)
  • Hemophagocytic lymphohistiocytosis may be viewed as a marker for underlying cancer, which in adults is most often a lymphoma that may be rapidly progressive. (medscape.com)
  • Hemophagocytic lymphohistiocytosis is one of the major diseases in adults and children. (dailybn.com)
  • Data on Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH) in adults in the United States remain very limited. (indexindex.com)
  • Causes, clinical symptoms, and outcomes of infectious diseases associated with hemophagocytic lymphohistiocytosis in Taiwanese adults. (cams.cn)
  • Hemophagocytic lymphohistiocytosis in adults. (edu.ua)
  • A consensus review on malignancy-associated hemophagocytic lymphohistiocytosis in adults. (edu.ua)
  • The Hemophagocytic Lymphohistiocytosis (HLH) market dynamics are anticipated to change in the coming years owing to the expected approval of emerging therapies focused on treating Hemophagocytic Lymphohistiocytosis (HLH) during the forecast period of 2021‒2034. (olympusresearchglobal.com)
  • The Report covers the overview, treatment practice, and Hemophagocytic Lymphohistiocytosis (HLH) forecasted epidemiology from 2021 to 2034 segmented by the seven major markets. (olympusresearchglobal.com)
  • Primary hemophagocytic lymphohistiocytosis (ie, familial erythrophagocytic lymphohistiocytosis [FEL]), an inherited form of hemophagocytic lymphohistiocytosis syndrome, is a heterogeneous autosomal recessive disorder found to be more prevalent with parental consanguinity. (medscape.com)
  • The "HLH-2004: diagnostic criteria for hemophagocytic lymphohistiocytosis" proposed by the Histiocyte Society clearly reported that genetic defects are the gold standard of primary HLH. (biomedcentral.com)
  • This study aimed to investigate the clinical characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis (pHLH) associated with perforin gene deficiency . (bvsalud.org)
  • The study is aimed to explore the clinical characteristics of hemophagocytic lymphohistiocytosis (HLH) in AIDS patients with opportunistic infections and malignancies. (mil.cn)
  • Hemophagocytic lymphohistiocytosis (HLH) is an uncommon disorder causing immune dysfunction in infants and young children. (msdmanuals.com)
  • Hemophagocytic lymphohistiocytosis (HLH) is uncommon. (msdmanuals.com)
  • North America is likely to hold the largest share of the global hemophagocytic lymphohistiocytosis market. (dailybn.com)
  • Fever, cytopenia enlarged liver or spleen, and neurological abnormalities are some of the common symptoms of hemophagocytic lymphohistiocytosis. (dailybn.com)
  • Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease of normal but overactive histiocytes and lymphocytes that commonly appears in infancy, although it has been seen in all age groups. (medscape.com)
  • Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory syndrome that can be familial or acquired, and is characterized by persistent fever, pancytopenia, hepatosplenomegaly, and increased serum ferritin ( 2 ). (cdc.gov)
  • Hemophagocytic lymphohistiocytosis (HLH) is a frequently fatal and likely underdiagnosed disease involving a final common pathway of hypercytokinemia, which can result in end-organ damage and death. (medscape.com)
  • 摘要: HEMOPHAGOCYTIC lymphohistiocytosis (HLH) is an aggressive and potentially fatal syndrome that results from inappropriate activation of lymphocytes and macrophages. (cams.cn)
  • Hemophagocytic lymphohistiocytosis (HLH) is a rare hematologic disorder characterized by uncontrolled immune response resulting in multiorgan damage. (rcpjournals.org)
  • Hemophagocytic Lymphohistiocytosis (HLH) is a severe inflammatory disorder characterized by a significant accumulation of activated CD8+ T lymphocytes and histiocytes in the bone marrow and lymphoid tissues. (olympusresearchglobal.com)
  • Hemophagocytic Lymphohistiocytosis (HLH) is a rare, hyperinflammatory syndrome due to pathologic immune activation. (longdom.org)
  • Hemophagocytic lymphohistiocytosis is a rare disease in which the body produces high amounts of activated immune cells such as macrophages and lymphocytes. (dailybn.com)
  • Background: Hemophagocytic lymphohistiocytosis (HLH) is an infrequent but life-threatening disease due to excessive immune activation. (elsevierpure.com)
  • Hemophagocytic Lymphohistiocytosis (HLH) is an inherited disease of the immune system. (olympusresearchglobal.com)
  • Hemophagocytic lymphohistiocytosis (HLH) is a rare disease entity characterized by an inappropriate immune activation syndrome characterized by fever, hepatosplenomegaly, cytopenia and progressive multiple-organ failure. (asn-online.org)
  • HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. (scienceopen.com)
  • Hemophagocytic Lymphohistiocytosis (HLH) is a rapidly progressing, hyperinflammatory condition in which activated T cells and macrophages infiltrate numerous organs. (preventiongenetics.com)
  • Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome induced by aberrantly activated macrophages and cytotoxic T cells. (scienceopen.com)
  • Tuberculosis-associated hemophagocytic lymphohistiocytosis (TB-HLH) is a rare and life-threatening complication of tuberculosis infection. (rcpjournals.org)
  • However, EBV has been linked to several refractory diseases such as EBV-associated hemophagocytic syndrome(EBV-AHS) and chronic active EBV infection (CAEBV). (researchgate.net)
  • Hemophagocytic lymphohistiocytosis (HLH) is a rare, lifethreatening state of extreme inflammation and tissue destruction. (longdom.org)
  • Objective: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder which develops as a result of cytokine storm syndrome due to uncontrolled hemophagocytosis. (ogu.edu.tr)
  • Although the patient died from a rare complication of dengue called hemophagocytic lymphohistiocytosis , this is the third dengue-related death ever in the United States. (cdc.gov)
  • Unavailability of treatment in developing counties may hamper the growth of the hemophagocytic lymphohistiocytosis market. (dailybn.com)
  • Treatment for hemophagocytic Lymphohistiocytosis should be started if the disorder is suspected. (olympusresearchglobal.com)
  • Glomerular hemophagocytic macrophages in a patient with proteinuria and clinical and laboratory features of hemophagocytic lymphohistiocytosis (HLH). (cams.cn)
  • Cutaneous involvement occurs in as many as 65% of patients with hemophagocytic lymphohistiocytosis (HLH). (medscape.com)
  • A Hemophagocytic Lymphohistiocytosis Patient Initiated with Prominent Liver Dysfunction: a Case Report[J].Chinese Medical Sciences Journal, 2014, 29(3): 191-193. (cams.cn)
  • The expanding spectrum of hemophagocytic lymphohistiocytosis. (medlineplus.gov)
  • Keywords: Hemophagocytic lymphohistiocytosis (HLH), graft versus host disease (GVHD). (asn-online.org)
  • Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition characterized by a state of hyperinflammation. (scienceopen.com)