Heavy Chain Disease
A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.
Immunoglobulin gamma-Chains
Heavy chains of IMMUNOGLOBULIN G having a molecular weight of approximately 51 kDa. They contain about 450 amino acid residues arranged in four domains and an oligosaccharide component covalently bound to the Fc fragment constant region. The gamma heavy chain subclasses (for example, gamma 1, gamma 2a, and gamma 2b) of the IMMUNOGLOBULIN G isotype subclasses (IgG1, IgG2A, and IgG2B) resemble each other more closely than the heavy chains of the other IMMUNOGLOBULIN ISOTYPES.
Immunoglobulin alpha-Chains
Immunoglobulin Heavy Chains
Immunoelectrophoresis
A technique that combines protein electrophoresis and double immunodiffusion. In this procedure proteins are first separated by gel electrophoresis (usually agarose), then made visible by immunodiffusion of specific antibodies. A distinct elliptical precipitin arc results for each protein detectable by the antisera.
Blood Protein Disorders
'Blood Protein Disorders' refer to conditions characterized by an abnormal amount, structure, or function of proteins present in the blood, including immunoglobulins, coagulation factors, complement components, and transport proteins, which can lead to various clinical manifestations such as immune dysfunction, bleeding disorders, or metabolic imbalances.
Immunoproliferative Small Intestinal Disease
A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA.
Nodular glomerulosclerosis with deposition of monoclonal immunoglobulin heavy chains lacking C(H)1. (1/68)
The objective of this study was to further characterize the clinical and immunopathologic features of heavy chain deposition disease (HCDD), a recently described entity. Four patients were diagnosed as having HCDD on a kidney biopsy. All presented with nodular glomerulosclerosis with deposition of gamma1 heavy chains lacking CH1 epitopes, but without light chains. Two different patterns were observed in the serum. First, patients 1 and 2 had a circulating monoclonal IgGlambda containing a short gamma1 heavy chain lacking CH1 epitopes, with an apparent molecular weight of 40 kD consistent with a complete CH1 deletion. Biosynthetic experiments also showed that the deleted heavy chain was produced in excess compared with light chains, and was secreted in vitro together with half Ig molecules, although these abnormal components were not detected by Western blot analysis of whole serum. Second, patients 3 and 4 had a circulating monoclonal IgG1lambda with an apparently normal, nondeleted heavy chain subunit, but serum fractionation followed by immunoblotting revealed an isolated monoclonal gamma1 chain lacking CH1 epitopes. These data strongly suggest that renal deposition of a CH1-deleted heavy chain circulating in low amounts in the serum as a free unassembled subunit is a major feature of HCDD. The CH1 deletion is most likely responsible for the premature secretion in blood of the heavy chain by a clone of plasma cells. (+info)Gamma heavy chain disease in man: translation and partial purification of mRNA coding for the deleted protein. (2/68)
Lymphoid cells obtained from the peripheral blood of a patient with heavy chain disease have been established in long-term culture. They continue to produce a protein antigenically identical to the deleted gamma3 heavy chain disease protein found in the patient's serum. The availability of the cell line has made it possible to analyze the mRNA coding for this protein. The primary in vitro translation product is 1500-2000 daltons larger than the polypeptide portion of the cytoplasmic or secreted protein and has methionine at the amino terminus. The mRNA sediments at 15.5 S on sucrose gradients and therefore appears to be smaller than the 17S message coding for normal-sized mouse gamma chains. It contains a base sequence that codes for a hydrophobic amino-terminal peptide not found in the cytoplasmic protein. There was no evidence for the synthesis of translatable light chain message by these cells. The present data suggest that this protein results from a primary somatic genetic event that gave rise to a cell product bearing a normal aminoterminus sensitive to limited proteolytic digestion. The serum protein thus appears to begin in the hinge region but, in fact, contains a normal heavy chain initiation site. (+info)Gamma heavy chain disease simulating alpha chain disease. (3/68)
A young Turkish girl presented with all the clinicopathological features of a digestive form of alpha chain disease. A gamma heavy chain disease protein, however, was found in her serum and also in the cells invading the intestinal mucosa and mesenteric lymph nodes. (+info)Human heavy chain disease protein WIS: implications for the organization of immunoglobulin genes. (4/68)
Protein WIS is a human gamma3 heavy (H) chain disease immunoglobulin variant whose amino acid sequence is most readily interpreted by postulating that three residues of the amino terminus are followed by a deletion of most of the variable (VH) domain, which ends at the variable-constant (VC) joining region. Then there is a stretch of eight residues, three of which are unusual, while the other five have striking homology to the VC junction sequence. This is followed by a second deletion, which ends at the beginning of the quadruplicated hinge region. These findings are consistent with mutations resulting in deletions of most of the gene coding for the V region and CH1 domain followed by splicing at the VC joining region and at the hinge. These structural features fit well the notion of genetic discontinuity between V and C genes and also suggest similar mechanisms of excision and splicing in the interdomain regions of the C gene of the heavy chain. (+info)A case of gamma 3 heavy chain disease with vacuolated plasma cells: a clinical, immunological, and ultrastructural study. (5/68)
A patient with lambda Bence-Jones proteinuria, Waldenstrom's macroglobulinaemia, and Franklin's disease (gamma HCD), but without clinical evidence of a lymphoproliferative disorder, is presented. The serum contained two distinct immunoglobulin abnormalities: a monoclonal immunoglobulin M (IgM) of lambda type, and a protein fragment which was immunologically related to immunoglobulin G (IgG) and devoid of light chain activity. This gamma HCD protein belongs to the gamma 3 subclass with a molecular weight of approximately 60,000 daltons. The urine contained a Bence-Jones lambda protein as well as the gamma HCD fragment. The two paraproteins were probably secreted by two different malignant clones. Ultrastructural study revealed pathological vacuolated plasma cells of a sort that has hitherto been principally described in association with micron HCD. The mechanism of the intracellular storage of pathological immunoglobulins is discussed in the light of the ultrastructural study. (+info)Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone. (6/68)
A patient, CAL, with gamma heavy chain disease is presented who has had a complete remission lasting over 2 yr with combination chemotherapy consisting of pulsatile cyclophosphamide and prednisone. The patient exhibited many features of an atuoimmune process including a vasculitis, low serum complement levels, a positive antiglobulin (Coombs) test, Raynaud's phenomenon, and keratoconjunctivitis sicca. The CAL paraprotein was found to have several previously undescribed characteristics. It reacted with antisera to Fd, Fab, and Fab', suggesting that most of the Fd portion of the molecule was intace. CAL protein consists of two polypeptide chains of molecular weight 49,000 covalently linked to form a dimer of 95,000 molecular weight. The covalent linkage suggests that the hinge region of this gamma heavy chain is intact. (+info)Immunodiagnosis of alpha chain disease. (7/68)
Since the early diagnosis of alpha chain disease (alphaCD)) is essential to successful treatment and to epidemiological studies, the available immunodiagnostic techniques were compared for their sensitivity, specificity and ease of performance on a panel of sixteen sera, comprising ten alphaCD sera and six control sera containing either IgA myeloma protein or high levels of polyclonal IgA. Immunoselection by immunoelectrophoresis into gel containing a specially developed anti-Fabalpha antiserum provided the most sensitive and specific detection system for alphaCD protein. The same technique using anti-light chain antiserum for immunoselection was also highly sensitive, but proved less specific, being prone to false positives with difficult IgA myeloma proteins. Somewhat less sensitive, but specific and simple to perform, was immunoelectrophoresis using an antiserum recognizing the conformational specificities of Fabalpha as well as those of the constant region of alpha chains. Immunoselection using the Ouchterlony or rocket techniques proved to be less sensitive and prone to false positives when some IgA myeloma sera were tested. (+info)Celluar immunoglobulins in human gamma- and alpha-heavy chain diseases. (8/68)
Proliferating cells from twenty-four patients with alpha- or gamma-heavy chain disease (HCD) were studied by direct immunofluorescence and in several cases by biosynthesis experiments with 14C-amino acid incorporation. In twenty-two patients, the cells contained the HCD proteins only and no light chain synthesis could be detected. Conversely, apparently non-secreted monotypic light chains were found in one case of gamma-HCD and one case of alpha-HCD. The proportion of proliferating cells containing cytoplasmic heavy chains, their appearance and the presence or not of surface heavy chains showed great variation from patient to patient. In some cases, the proliferation predominantly affected either plasma cells or lymphocytes whereas in others the disease seemed to correspond to a proliferation of HCD protein-bearing lymphocytes with persistent maturation into plasma cells. Large cell lymphomas supervening on alpha-HCD belonged to the same proliferating clone as the clone secreting the HCD protein, as shown by surface markers and biosynthesis experiments which demonstrated synthesis but no secretion of HCD proteins. In one patient with gamma-HCD, the cells carried surface gamma and delta chains. (+info)Heavy Chain Disease is a rare plasma cell disorder characterized by the production of monoclonal immunoglobulin heavy chains without associated light chains, which can be alpha, gamma or mu types, leading to various clinical manifestations including lymphoplasmacytic infiltration of bone marrow, lymphadenopathy, hepatosplenomegaly and immune deficiency.
Heavy Chain Disease (HCD) is a rare and serious condition related to B-cell disorders, where the immunoglobulin molecules produced by the immune system are defective. Normally, an immunoglobulin molecule consists of two heavy chains and two light chains. However, in Heavy Chain Disease, the immunoglobulins lack light chains and have only one or two heavy chains. This leads to the production of abnormal antibodies that can cause damage to various organs, particularly the spleen, lymph nodes, and bone marrow.
There are three types of Heavy Chain Disease: Alpha (α), Gamma (γ), and Mu (μ) HCD, each named after the type of heavy chain involved. The most common form is Alpha-HCD, which primarily affects children and young adults in Mediterranean countries and is often associated with an underlying immune deficiency disorder. Gamma-HCD and Mu-HCD are rarer and typically occur in older adults without any known immune deficiency.
Heavy Chain Disease can be challenging to diagnose due to its rarity and nonspecific symptoms, which may include fatigue, weight loss, frequent infections, anemia, and enlarged lymph nodes or spleen. Diagnosis usually involves a combination of clinical evaluation, laboratory tests, imaging studies, and sometimes bone marrow biopsy. Treatment options depend on the type and severity of HCD and may include chemotherapy, immunotherapy, targeted therapy, or stem cell transplantation.
Immunoglobulin Gamma-Chains are the heavy protein chains (polypeptides) that constitute the backbone of Immunoglobulin G (IgG), Immunoglobulin A (IgA), and Immunoglobulin D (IgD) antibodies, playing a crucial role in antigen recognition and immune response mediation.
Immunoglobulin G (IgG) gamma chains are the heavy, constant region proteins found in IgG immunoglobulins, which are a type of antibody. These gamma chains are composed of four subunits - two heavy chains and two light chains - and play a crucial role in the immune response by recognizing and binding to specific antigens, such as pathogens or foreign substances.
IgG is the most abundant type of antibody in human serum and provides long-term immunity against bacterial and viral infections. The gamma chains contain a region that binds to Fc receptors found on various immune cells, which facilitates the destruction of pathogens or foreign substances. Additionally, IgG can cross the placenta, providing passive immunity to the fetus.
Abnormalities in the production or function of IgG gamma chains can lead to various immunodeficiency disorders, such as X-linked agammaglobulinemia, which is characterized by a lack of functional B cells and low levels of IgG antibodies.
Immunoglobulin (Ig) alpha-chains are heavy chains found in certain types of antibodies, specifically IgA and IgD, which contain a variable region for antigen binding, four constant regions (Cα1-Cα4), and an attached peptide called the alpha-chain tail piece that plays a role in effector functions and transport across epithelial cells.
Immunoglobulin alpha-chains (IgA) are a type of immunoglobulin or antibody that plays a crucial role in the immune system. They are composed of two heavy chains, known as alpha-chains, and two light chains. IgA is primarily found in secretions such as tears, saliva, breast milk, and respiratory and intestinal mucus, where they provide protection against pathogens that enter the body through these surfaces.
IgA can exist in two forms: a monomeric form, which consists of a single IgA molecule, and a polymeric form, which consists of several IgA molecules joined together by a J chain. The polymeric form is more common in secretions, where it provides an effective barrier against pathogens.
IgA functions by binding to antigens on the surface of pathogens, preventing them from attaching to and infecting host cells. It can also neutralize toxins produced by some bacteria and viruses. Additionally, IgA can activate the complement system, a group of proteins that work together to destroy pathogens, and initiate an immune response by recruiting other immune cells to the site of infection.
Deficiencies in IgA are relatively common and usually do not cause any significant health problems. However, in some cases, people with IgA deficiency may develop recurrent infections or allergies.
Immunoglobulin heavy chains are large polypeptide chains that, in combination with light chains, constitute the antigen-binding part of antibodies and are responsible for specificity of antibody-antigen interactions.
Immunoglobulin heavy chains are proteins that make up the framework of antibodies, which are Y-shaped immune proteins. These heavy chains, along with light chains, form the antigen-binding sites of an antibody, which recognize and bind to specific foreign substances (antigens) in order to neutralize or remove them from the body.
The heavy chain is composed of a variable region, which contains the antigen-binding site, and constant regions that determine the class and function of the antibody. There are five classes of immunoglobulins (IgA, IgD, IgE, IgG, and IgM) that differ in their heavy chain constant regions and therefore have different functions in the immune response.
Immunoglobulin heavy chains are synthesized by B cells, a type of white blood cell involved in the adaptive immune response. The genetic rearrangement of immunoglobulin heavy chain genes during B cell development results in the production of a vast array of different antibodies with unique antigen-binding sites, allowing for the recognition and elimination of a wide variety of pathogens.
Immunoelectrophoresis is a laboratory technique that combines electrophoretic separation of proteins with immunodiffusion to identify and quantitate specific antigens or antibodies, commonly used in the diagnosis of immune system disorders and certain types of cancer.
Immunoelectrophoresis (IEP) is a laboratory technique used in the field of clinical pathology and immunology. It is a method for separating and identifying proteins, particularly immunoglobulins or antibodies, in a sample. This technique combines the principles of electrophoresis, which separates proteins based on their electric charge and size, with immunological reactions, which detect specific proteins using antigen-antibody interactions.
In IEP, a protein sample is first separated by electrophoresis in an agarose or agar gel matrix on a glass slide or in a test tube. After separation, an antibody specific to the protein of interest is layered on top of the gel and allowed to diffuse towards the separated proteins. This creates a reaction between the antigen (protein) and the antibody, forming a visible precipitate at the point where they meet. The precipitate line's position and intensity can then be analyzed to identify and quantify the protein of interest.
Immunoelectrophoresis is particularly useful in diagnosing various medical conditions, such as immunodeficiency disorders, monoclonal gammopathies (like multiple myeloma), and other plasma cell dyscrasias. It can help detect abnormal protein patterns, quantify specific immunoglobulins, and identify the presence of M-proteins or Bence Jones proteins, which are indicative of monoclonal gammopathies.
'Blood Protein Disorders' refer to conditions characterized by an abnormal amount, structure, or function of proteins present in the blood, including immunoglobulins, coagulation factors, complement components, and transport proteins, which can lead to various clinical manifestations such as immune dysfunction, bleeding disorders, or metabolic imbalances.
Blood protein disorders refer to a group of medical conditions that affect the production or function of proteins in the blood. These proteins are crucial for maintaining the proper functioning of the body's immune system, transporting nutrients, and preventing excessive bleeding. Some examples of blood protein disorders include:
1. Hemophilia: A genetic disorder caused by a deficiency or absence of clotting factors in the blood, leading to prolonged bleeding and poor clot formation.
2. Von Willebrand disease: A genetic disorder characterized by abnormal or deficient von Willebrand factor, which is necessary for platelet function and proper clotting.
3. Dysproteinemias: Abnormal levels of certain proteins in the blood, such as immunoglobulins (antibodies) or paraproteins, which can indicate underlying conditions like multiple myeloma or macroglobulinemia.
4. Hypoproteinemia: Low levels of total protein in the blood, often caused by liver disease, malnutrition, or kidney disease.
5. Hyperproteinemia: Elevated levels of total protein in the blood, which can be caused by dehydration, inflammation, or certain types of cancer.
6. Hemoglobinopathies: Genetic disorders affecting the structure and function of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Examples include sickle cell anemia and thalassemia.
7. Disorders of complement proteins: Abnormalities in the complement system, which is a group of proteins involved in the immune response, can lead to conditions like autoimmune disorders or recurrent infections.
Treatment for blood protein disorders varies depending on the specific condition and its severity but may include medications, transfusions, or other medical interventions.
Immunoproliferative Small Intestinal Disease (IPSID) is a rare condition characterized by the proliferation of plasma cells in the small intestine, leading to malabsorption and diarrhea, often associated with a specific protein called alpha-defensin in the intestinal secretions.
Immunoproliferative Small Intestinal Disease (IPSID) is a rare condition primarily affecting the small intestine. It is characterized by an excessive proliferation of immune cells, particularly plasma cells, in the lining of the small intestine. This leads to thickening of the intestinal wall, impaired absorption of nutrients, and various gastrointestinal symptoms. IPSID is often associated with a specific type of abnormal protein, called an alpha-defensin, in the stool. It's also known as alpha-defensin enteropathy or Mediterranean lymphoma. The exact cause of IPSID is not fully understood, but it may be linked to chronic antigenic stimulation, such as that caused by certain bacterial infections.
Heavy chain disease
... gamma chain disease (Franklin's disease) mu chain disease delta chain disease The most common type of heavy chain disease is ... This disease is characterized by an excessive production of heavy chains that are short and truncated. These heavy chain ... Franklin's disease (gamma heavy chain disease) It is a very rare B-cell lymphoplasma cell proliferative disorder which may be ... The IgM type of heavy chain disease, μHCD, is often misdiagnosed as chronic lymphoid leukemia (CLL) because the two diseases ...
Monoclonal gammopathy
Heavy chains only (also known as "heavy chain disease"); Whole immunoglobulins. If immunoglobulins tend to precipitate within ... Note that while most heavy chains or whole immunoglobulins remain within blood vessels, light chains frequently escape and are ... Ma ES, Lee ET (2007). "A case of IgM paraproteinemia in which serum free light chain values were within reference intervals". ... Paraproteinemias may be categorized according to the type of monoclonal protein found in blood:[citation needed] Light chains ...
IGHG3
Alexander A, Steinmetz M, Barritault D, Frangione B, Franklin EC, Hood L, Buxbaum JN (Sep 1982). "gamma Heavy chain disease in ... Wolfenstein-Todel C, Frangione B, Prelli F, Franklin EC (1976). "The amino acid sequence of "heavy chain disease" protein ZUC. ... gamma 3 heavy-chain disease protein Wis". Biochemistry. 19 (18): 4304-8. doi:10.1021/bi00559a024. PMID 6774747. Lewis AP, Lemon ... 1986). "Sequence of a human immunoglobulin gamma 3 heavy chain constant region gene: comparison with the other human C gamma ...
Organization and expression of immunoglobulin genes
Franklin, EC.; Prelli, F.; Frangione, B. (1979). "Human heavy-chain disease protein WIS: implications for the organization of ... Here at this stage, Pre-B cell, mμ heavy chain and surrogate light chain are formed. The final rearrangement of the light chain ... Antibody (or immunoglobulin) structure is made up of two heavy-chains and two light-chains. These chains are held together by ... a partial rearrangement of the heavy-chain gene occurs which is followed by complete rearrangement of heavy-chain gene. ...
Edward C. Franklin
Franklin uncovered that serum and urine from a patient with heavy chain disease retained incomplete or abnormal heavy chains ... Besides abnormalities to the heavy chains themselves, Franklin would later discover that some heavy chains contained ... Franklin discovered heavy chain disease, one type of which is named after him (Franklin's disease). The Edward C. Franklin ... Franklin's particular study examined abnormalities in gamma globulins of patients with heavy chain disease, which would later ...
John S. K. Kauwe III
"Association Between a Common Immunoglobulin Heavy Chain Allele and Rheumatic Heart Disease Risk in Oceania". Nature ... "A Rapid Echocardiographic Screening Protocol for Rheumatic Heart Disease in Samoa: A High Prevalence of Advanced Disease". ... He is a researcher who specializes in the genetics of Alzheimer's disease. The oldest of seven children, Kauwe was born in ... He also conducts research on the genetics of other human traits and diseases (height, biomarkers of inflammation) as well as ...
Orestes Manousos
In particular, their work on α-heavy chain disease and Mediterranean Lymphoma was of global impact. He organized an important ... "Immunoproliferative Small Intestinal Disease with 40-years of follow-up: A case of cured α-chain disease with recurrent ... "α-Chain disease causing kaliopenic nephropathy and fatal intestinal perforations". The American Journal of Digestive Diseases. ... "Alpha-chain Disease with Clinical, Immunological, and Histological Recovery". O. N. Manousos, J. C. Economidou, D. E. ...
Monoclonal Immunoglobulin Deposition Disorder
... light and heavy chain deposition disease, where both heavy and light chains of immunoglobulins are deposited, and heavy chain ... Heavy Chain Deposition Disease (HCDD) features deposition of heavy chains only. Most commonly, this subtype is formed of ... The immunoglobulin heavy chain in HCDD is frequently a truncated heavy chain. HCDD is the rarest subtype of MIDD. Serum protein ... deposition disease, where only immunoglobulin heavy chains are deposited. Light chain deposition disease (LCDD) is the most ...
Plasma cell
Plasmacytoma, multiple myeloma, Waldenström macroglobulinemia, heavy chain disease, and plasma cell leukemia are cancers of the ... Primary amyloidosis (AL) is caused by the deposition of excess immunoglobulin light chains which are secreted from plasma cells ... "In vitro splenic IgG synthesis in Hodgkin's disease". The New England Journal of Medicine. 289 (15): 763-7. doi:10.1056/ ...
NOX2
"A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease". ... beta chain has an alpha chain partner (produced from the CYBA gene). Both alpha and beta chains are required for either to ... Teahan C, Rowe P, Parker P, Totty N, Segal AW (1987). "The X-linked chronic granulomatous disease gene codes for the beta-chain ... NADPH oxidase 2 (Nox2), also known as cytochrome b(558) subunit beta or Cytochrome b-245 heavy chain, is a protein that in ...
B-cell receptor
Corcos D (1990). "Oncogenic potential of the B cell antigen receptor and its relevance to heavy chain diseases and other B-cell ... "Pre-B-cell development in the absence of lambda 5 in transgenic mice expressing a heavy-chain disease protein". Current Biology ... which is composed of two surrogate light chains and two immunoglobulin heavy chains, which are normally linked to Ig-α (or ... which is composed of two immunoglobulin light chains (IgLs) and two immunoglobulin heavy chains (IgHs) as well as two ...
MYH9
April 2010). "Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the ... Myosin-9 also known as myosin, heavy chain 9, non-muscle or non-muscle myosin heavy chain IIa (NMMHC-IIA) is a protein which in ... "Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease". Human ... and two essential light chains (17 kDa), which stabilize the heavy chain structure. MYH9 is a large gene spanning more than 106 ...
MYH7
"Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial ... MYH7 is a gene encoding a myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart, but also in ... The 9 nm alpha-helical neck region of each MHC-β head non-covalently binds two light chains, essential light chain (MYL3) and ... This isoform is distinct from the fast isoform of cardiac myosin heavy chain, MYH6, referred to as MHC-α. MHC-β is the major ...
Heavy chain
... an antibody composed of heavy chains only Heavy chain disease, a disease affecting antibody heavy chain production Myosin heavy ... Heavy chain may refer to: Immunoglobulin heavy chain, a subunit of antibodies Heavy-chain antibody, ... chain, a subunit of myosin II Myosin-heavy-chain kinase, an enzyme that catalyses the phosphorylation of myosin heavy chains ... This disambiguation page lists articles associated with the title Heavy chain. If an internal link led you here, you may wish ...
Cold agglutinin disease
"Immunoglobulin heavy and light chain gene features are correlated with primary cold agglutinin disease onset and activity". ... Cold agglutinin disease was first described in 1957. Symptoms of cold agglutinin disease (CAD) are often triggered or made ... Cold agglutinin disease (CAD) is a rare autoimmune disease characterized by the presence of high concentrations of circulating ... "Cold agglutinin disease". Genetic and Rare Diseases Information Center (GARD) - an NCATS Program. 2019-01-24. Archived from the ...
Tumors of the hematopoietic and lymphoid tissues
... of undetermined significance Heavy chain diseases Mu heavy chain disease Gamma heavy chain disease Alpha heavy chain disease ... plasmacytoma Monoclonal immunoglobulin deposition diseases Primary amyloidosis Light chain and heavy chain deposition diseases ... In general, a bone marrow biopsy is part of the "work up" for the analysis of these diseases. All specimens are examined ... Infectious respiratory disease in non-HIV immunocompromised patients. Jose RJ1, Dickey BF, Brown JS. PMID: 25488531 doi: ...
List of MeSH codes (C20)
... heavy chain disease MeSH C20.683.780.490.512 - immunoproliferative small intestinal disease MeSH C20.683.780.640 - monoclonal ... Aleutian mink disease MeSH C20.673.774.535 - granulomatous disease, chronic MeSH C20.673.774.600 - Job's syndrome MeSH C20.683. ... Still's disease, adult-onset MeSH C20.111.258.250 - demyelinating autoimmune diseases, cns MeSH C20.111.258.250.175 - diffuse ... Hodgkin disease MeSH C20.683.515.761.480 - lymphoma, non-Hodgkin MeSH C20.683.515.761.480.150 - lymphoma, b-cell MeSH C20.683. ...
International Classification of Diseases for Oncology
M9762/3 Heavy chain disease, NOS Alpha heavy chain disease Mu heavy chain disease Gamma heavy chain disease Franklin disease ... M9768/1 T-gamma lymphoproliferative disease M9769/1 Immunoglobulin deposition disease Systemic light chain disease Primary ... Paget disease of breast M8541/3 Paget disease and infiltrating duct carcinoma of breast (C50._) M8542/3 Paget disease, ... extramammary (except Paget disease of bone) M8543/3 Paget disease and intraductal carcinoma of breast (C50._) M8550/0 Acinar ...
Marginal zone B-cell lymphoma
Immunoproliferative small intestinal disease, formerly termed Mediterranean lymphoma or considered a type of alpha heavy chain ... Bianchi G, Sohani AR (January 2018). "Heavy Chain Disease of the Small Bowel". Current Gastroenterology Reports. 20 (1): 3. doi ... Disease that moves past a localized stage to become disseminated, rapidly progressive disease, and symptomatic disease have ... where the bacterium has not been associated with the disease. Treatment of Borrelia burdorferi-negative disease or disease for ...
Lymphoma
Plasmacytoma Monoclonal immunoglobulin deposition diseases Heavy chain diseases Extranodal marginal zone B cell lymphoma, also ... a disease wherein these cells' infiltrative lesions are limited to the stomach. These diseases do not progress to cancer, may ... relapse of malignant disease and incidence of acute and chronic graft-versus-host diseases if they are used for prophylactic ... Risk factors for Hodgkin lymphoma include infection with Epstein-Barr virus and a history of the disease in the family. Risk ...
Vobarilizumab
Llama-derived heavy-chain only (Vhh) antibody) designed for the treatment of inflammatory autoimmune diseases. This drug was ...
MiR-208
... functions in cardiomyocytes regulating the production of the myosin heavy chain during development. It also responds to ... Cai B, Pan Z, Lu Y (2010). "The roles of microRNAs in heart diseases: a novel important regulator". Current Medicinal Chemistry ... miR-208 is thought to be dysregulated in various cardiovascular diseases. ...
Zhang Yufeng
Mao's health declined in his last years, probably aggravated by his heavy chain-smoking. He developed Amyotrophic Lateral ... Sclerosis, known in the United States as Lou Gehrig's disease. At this time, the political weight of Zhang especially increased ...
Jeffery Dangl
... studying mouse Ig heavy-chain genes. Following his Ph.D., he moved to studying Arabidopsis as a model system for plant disease ... Dangl has studied the genetic and molecular basis of plant disease susceptibility and resistance gene-for-gene relationship. He ...
List of MeSH codes (C15)
... heavy chain disease MeSH C15.378.147.780.490.512 - immunoproliferative small intestinal disease MeSH C15.378.147.780.650 - ... heavy chain disease MeSH C15.604.515.435.512 - immunoproliferative small intestinal disease MeSH C15.604.515.509 - ... hemoglobin sc disease MeSH C15.378.420.155.668 - sickle cell trait MeSH C15.378.420.463 - hemoglobin c disease MeSH C15.378. ... hemorrhagic disease of newborn MeSH C15.378.463.920 - von willebrand disease MeSH C15.378.463.950 - waterhouse-friderichsen ...
House of Industry (Dublin)
... where lunatics were loaded with heavy chains and fallen women bound and logged". and Parliament believed the House of Industry ... In 1805 Sir John Carr in his Tour of Ireland described the workhouse as "A gloomy abode of mingled want, disease, vice and ...
Epstein-Barr virus-associated lymphoproliferative diseases
Immunoglobulin heavy chain) gene locus at position 14q32, the IGK (i.e. immunoglobulin kappa light chain) gene at position 2p12 ... Chronic autoimmune or inflammatory diseases (e.g. rheumatoid arthritis, Graves' disease, Giant-cell arteritis, sarcoidosis, or ... 5) Chronic autoimmune and inflammatory diseases such as rheumatoid arthritis, Graves' disease, Giant-cell arteritis, ... Epstein-Barr virus-associated lymphoproliferative diseases (also abbreviated EBV-associated lymphoproliferative diseases or ...
Sudden cardiac death of athletes
... mutation of the gene that produces the β-myosin heavy chain.[citation needed] Sudden cardiac death can usually be attributed to ... Heritable connective tissue diseases are rare, each disorder estimated at one to ten per 100,000, of which Marfan syndrome is ... After a disease-causing mutation has been identified in an index case (which is not always accomplished conclusively), the main ... After age 35, acquired coronary artery disease predominates (80%), and this is true regardless of the athlete's former level of ...
Global Hunger Index
... increasing rates of diet-related noncommunicable disease; emergency responses that disrupt local food systems; the heavy ... strengthening regional food supply chains; reviewing food, health, and economic systems through a One Health lens to chart a ... water and energy along the whole value chain Preventing and overuse of natural resources through monitoring strategies for ...
Cathepsin C
... the heavy chain and the light chain. Both the pro-region fragment and the heavy chain are glycosylated. Defects in the encoded ... In many inflammatory diseases, such as rheumatoid arthritis, chronic obstructive pulmonary disease (COPD), inflammatory bowel ... A heavy chain of about 164 residues and a light chain of about 69 residues are generated by cleavage of the catalytic domain. ... Cigić B, Krizaj I, Kralj B, Turk V, Pain RH (Jan 1998). "Stoichiometry and heterogeneity of the pro-region chain in tetrameric ...
Centers for DiseasAmyloidosisAntibodyImmunoglobulin heavyRenal diseaseProteinMonoclonal gammopathyDepositionPolypeptideImmunoglobulinsNeurodegenerative diseasesBone marrowMyosinDisordersAxonemal heavyGeneAbnormalSmall intestineLocusAutosomal dominantSystemic lupus erythemProteinsSlow the progression of the diseasePatients with hypertrophic cardiomyopathyGeneticHypertrophic cardiomyopathyMorphologicNephrotic syndromeSequencesLymphocytosisNeoplasmsPlasmaLightCommonlyBulky diseaseKidney diseasesAutoimmune diseaseAlpha heavy cCongenitalSyndromeGenesProgressesPhenotypesPolymeraseLymphomaAcuteNephropathyProliferativeGamma chainLymphocyte
Centers for Diseas3
- Centers for Disease Control and Prevention. (cdc.gov)
- Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
Amyloidosis4
- Mu-heavy chain disease associated with systemic amyloidosis. (medscape.com)
- Most of the patients in my clinic are blood and bone marrow transplant patients and patients with plasma cell diseases such as multiple myeloma, amyloidosis, POEMS syndrome, and Waldenstrom's macroglobulinemia. (dukehealth.org)
- Light chain (AL) amyloidosis is the most common type in the U.S. and is caused by a bone marrow disorder. (emedicinehealth.com)
- AA amyloidosis occurs as a reaction to another illness, usually severe and chronic inflammatory diseases or infections. (emedicinehealth.com)
Antibody4
- In some cases, the antibody produced is incomplete, consisting of only light chains or heavy chains (functional antibodies normally consist of two pairs of two different chains called a light chain and heavy chain). (msdmanuals.com)
- OBJECTIVE To compare the levels of the 9G4 idiotope (9G4 Id) in systemic lupus erythematosus (SLE) patients with a detailed disease activity index, the British Isles Lupus Assessment Group (BILAG) index, and serological parameters of disease activity by ds DNA antibody levels and serum C3 concentrations. (bmj.com)
- The following product was used in this experiment: Ferritin Heavy Chain Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5-27500, RRID AB_2544976. (thermofisher.com)
- Western blot was performed using Anti-Ferritin Heavy Chain Rabbit Polyclonal Antibody (Product # PA5-27500) and a 20kDa band corresponding to Ferritin Heavy Chain was observed across cell lines and tissues tested. (thermofisher.com)
Immunoglobulin heavy7
- Heavy chain disease is a form of paraproteinemia and plasma cell dyscrasia that involves the proliferation of cells producing immunoglobulin heavy chains. (wikipedia.org)
- Immunoglobulin Heavy Chain High-Throughput Sequencing in Pediatric B-Precursor Acute Lymphoblastic Leukemia: Is the Clonality of the Disease at Diagnosis Related to Its Prognosis? (frontiersin.org)
- High-throughput sequencing (HTS) of the immunoglobulin heavy chain ( IgH ) locus is a recent very efficient technique to monitor minimal residual disease of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). (frontiersin.org)
- This translocation involves the immunoglobulin heavy-chain gene on chromosome 14 and the BCL1 locus on chromosome 11. (medscape.com)
- In terms of the study population there were a number of patients with poor risk features, this included 56% of the study population with an unmutated immunoglobulin heavy chain variable region, 17% of the study population with either deletion 17p or TP53 mutation and 19% of the study population with a complex karyotype. (ecancer.org)
- When various characteristics were looked at and a Forest plot analysis was presented at the ASCO meeting, various variables did not affect the CR rate and these included age, stage of disease, 17p or TP53 mutation status or immunoglobulin heavy chain variable region mutation status. (ecancer.org)
- We have now established a new data pre-processing procedure to eliminate artifacts caused by a 5'-RACE library generation process, reanalyzed a previously studied data set defining human immunoglobulin heavy chain genes, and identified novel upstream regions, as well as previously identified upstream regions that may have been identified in error. (lu.se)
Renal disease4
- 1994. Pancreatitis in patients with end-stage renal disease. (uc.edu)
- Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. (medscape.com)
- Despite standard adequate haemodialysis, hyperkalaemia is common in patients with end-stage renal disease. (biomedcentral.com)
- Cellular senescence plays an essential role in the development and progression of end-stage renal disease (ESRD). (biomedcentral.com)
Protein6
- Deletion of the N-terminal part of the heavy chain disease protein leads to aggregation and signaling of the B cell receptor, presumably due to the loss of the anti-aggregating properties of the light chain. (wikipedia.org)
- A new extra sequence at the amino terminal of a mu heavy chain disease protein (DAG). (medscape.com)
- Excessive amounts of IgM M-proteins (monoclonal immunoglobulin protein, which may consist of both heavy and light chains or of only one type of chain) can also accumulate in other disorders, causing manifestations similar to macroglobulinemia. (merckmanuals.com)
- FTH1 is the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. (thermofisher.com)
- A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. (unito.it)
- Disorders characterized by abnormal proliferation of immunoglobulin-producing cells and abnormal proliferation of immunoglobulin monoclonal (M protein)represent part of the spectrum of disease due to the neoplastic behavior of the B lymphocyte series. (emedicodiary.com)
Monoclonal gammopathy1
- Mu-heavy chain disease: presentation as a benign monoclonal gammopathy. (medscape.com)
Deposition2
- Here, we take the opportunity to report an unusual association of heavy chain deposition disease (HCDD) with clear cell subtypes of renal cell carcinoma in a 48-year-old male of Indian ethnicity. (ijpmonline.org)
- To the best of our knowledge, this is one of the first reports demonstrating concurrent heavy chain deposition disease (HCDD) with clear cell subtypes of renal cell carcinoma in a 48- year-old male of Indian ethnicity. (ijpmonline.org)
Polypeptide2
- Normal immunoglobulin molecules consist of 2 pairs of polypeptide chains, designated the light and heavy chains, which are interconnected by disulfide bonds. (medscape.com)
- Normally Ig molecule consists of 4 polypeptide chains 2 heavy chains and 2 light chains. (emedicodiary.com)
Immunoglobulins1
- Among those that have shown correlation with disease activity and are present on immunoglobulins deposited in the renal lesions of tissue from patients are the 16/6, 2 GN2 3 idiotypes and the 9G4 idiotope (Id). (bmj.com)
Neurodegenerative diseases1
- Defects in ferritin proteins are associated with several neurodegenerative diseases. (thermofisher.com)
Bone marrow3
- This is characterized by a localization of the mutated heavy chains in extramedullary tissue, or solely in the bone marrow. (wikipedia.org)
- Primary sites of disease include peripheral blood, bone marrow. (merckmanuals.com)
- Bone marrow (BM) MRD analysis was performed after the last planned induction course and every 6 months in cases with detectable residual disease during the 36 months of maintenance therapy. (haematologica.org)
Myosin6
- Mutations in myosin heavy chain 7 (MYH7) commonly cause cardiomyopathy. (karger.com)
- Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. (karger.com)
- Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. (karger.com)
- Karam S, Raboisson MJ, Ducreux C, Chalabreysse L, Millat G, Bozio A, Bouvagnet P: A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. (karger.com)
- Synthetic peptide corresponding to Human heavy chain Myosin/MYH3 aa 100-200 conjugated to keyhole limpet haemocyanin. (abcam.com)
- Adult cardiomyocytes in mice primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6), whereas embryonic cardiomyocytes express beta-MHC (also known as Myh7). (ca.gov)
Disorders1
- Failure of the PN is associated with broad range of diseases including cancer, neurodegeneration, and immunological and metabolic disorders [ 1 ]. (hindawi.com)
Axonemal heavy1
- Applying a polymerase chain reaction-based approach, we identified a 1.5-kb partial complementary DNA of DNAH5 encoding a Chlamydomonas-related axonemal heavy dynein chain within the critical disease interval of this new PCD locus. (nih.gov)
Gene6
- This study suggests that mutation location in the MYH7 gene and changes in amino acid composition can have a negative impact on the disease outcome in individuals with cardiomyopathy. (karger.com)
- This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. (nih.gov)
- MYH9-related disease (MYH9-RD) is an autosomal dominant disorder caused by mutations in the MYH9 gene. (karger.com)
- Sickle-cell disease one of the classical illustrations of heterozygote advantage, whereby those who carry one copy of the mutation on the gene have increased fitness vis-a-vis those who carry two normal copies of the gene. (discovermagazine.com)
- A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
- Microarray profiling of hypothalamic gene expression changes in Huntington's disease mouse models. (lu.se)
Abnormal3
- Heavy chain diseases are plasma cell cancers in which a clone of plasma cells produces a large quantity of pieces of abnormal antibodies called heavy chains. (msdmanuals.com)
- An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (mcw.edu)
- Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney ( adrenal glands ). (medlineplus.gov)
Small intestine1
- The most common type of αHCD is the gastrointestinal form (known as immunoproliferative small intestine disease or IPSID), but it has also been reported in the respiratory tract, and other areas of the body. (wikipedia.org)
Locus1
- Finally, based on the outcomes of the analysis, we define a set of testable hypotheses with respect to the placement of particular alleles in complex IGHV locus haplotypes, and discuss the evolutionary relatedness of particular heavy chain variable genes based on sequences of their upstream regions. (lu.se)
Autosomal dominant1
- Central core disease (CCD) is predominantly an autosomal dominant neuromuscular condition exhibiting variable penetrance, which also has been described in association with the pharmacogenetic disorder malignant hyperthermia (MH). (bmj.com)
Systemic lupus erythem1
- Among the 25 or so idiotypes or idiotopes, few can be regarded as specific for systemic lupus erythematosus (SLE) and a limited number have been correlated with disease activity. (bmj.com)
Proteins3
- These heavy chain disease proteins have various deletions, mainly in their amino-terminal part, which causes the heavy chains to lose the ability to form disulfide bonds with the light chains. (wikipedia.org)
- Various disease states or conditions alter the pattern of proteins in electrophoresis (see Table 1 below). (medscape.com)
- The LC selectively cleaves a disease that is contracted by ingestion of food containing the neuronal proteins required for acetylcholine release. (cdc.gov)
Slow the progression of the disease2
- In other people, treatment with cyclophosphamide , prednisone (a corticosteroid), and antibiotics may slow the progression of the disease or lead to a remission. (msdmanuals.com)
- The goal of treatment is to relieve symptoms and slow the progression of the disease. (emedicinehealth.com)
Patients with hypertrophic cardiomyopathy1
- BRG1 is activated in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and MHC changes. (ca.gov)
Genetic2
- It is a clonal genetic heterogeneous disease generally thought to arise from the malignant transformation and expansion of a single lymphoid progenitor at various stages of development ( 3 - 5 ). (frontiersin.org)
- The increasing prevalence of infectious and genetic diseases is a significant factor in promoting the polymerase chain reaction market growth. (medgadget.com)
Hypertrophic cardiomyopathy1
- 8 However, characteristic muscle cores have been reported in association with several other myopathies, namely multi-mini core disease (MmD), nemaline myopathy, and hypertrophic cardiomyopathy. (bmj.com)
Morphologic1
- Courtois L, Sujobert P. Morphologic features of μ-heavy-chain disease. (medscape.com)
Nephrotic syndrome1
- In patients presenting with nephrotic syndrome , distinguishing focal segmental glomerulosclerosis (FSGS) from other glomerular diseases (eg, minimal-change disease, mesangial proliferative glomerulonephritis, membranoproliferative glomerulonephritis, membranous glomerulonephritis) is clinically difficult. (medscape.com)
Sequences1
- Idiotypes may represent amino acid sequences located on light or heavy chains alone or in combination. (bmj.com)
Lymphocytosis1
- There is also a disease called acute infectious lymphocytosis that runs with a severe lymphocytosis (between 40 and 80) but with a good prognosis. (mrlabtest.com)
Neoplasms1
- Lymphomas are part of the broad group of diseases called hematological neoplasms. (newworldencyclopedia.org)
Plasma4
- Gamma heavy chain disease is caused by increased plasma cell s which results in an increase of IgG . (cancer.gov)
- Plasma cells are derived from B lymphocytes and produce immunoglobulin (Ig) which contains heavy and light chains. (emedicodiary.com)
- In myeloma, plasma cells produce monoclonal (M) Ig of a single heavy and light chain commonly referred to as a paraprotein. (emedicodiary.com)
- In cases where a high suspicion for a clonal plasma cell disorder is high, more sensitive tests such as a serum immunofixation or free light chain assay should be performed. (medscape.com)
Light7
- Diagnosis is made by the demonstration of an anomalous serum M component that reacts with anti-IgG but not anti-light chain reagents. (wikipedia.org)
- It is composed of 24 subunits of the heavy and light ferritin chains. (thermofisher.com)
- After autopsy, pSer129 alpha-synuclein (pSer129-αSyn), p-tau, and amyloid-beta, together with neurofilament light-chain (NfL) and phosphorylated neurofilament medium- and heavy-chain (p-NfM/H) immunoreactivity were quantified in 7 cortical regions, and studied in detail with confocal-laser scanning microscopy. (biorxiv.org)
- Each Ig molecules have either 2 kappa or 2 lambda light chains. (emedicodiary.com)
- The most common abnormality is the production of excess of light chains over heavy chains. (emedicodiary.com)
- The excess light chains are secreted into the extracellular fluid and readily pass through the glomerulus. (emedicodiary.com)
- Intoxication with delivering the catalytic light chain (LC) to its target via its N- one of the seven distinct serotypes of BoNT (A-G) causes botulism, terminal translocation domain (HN) [6]. (cdc.gov)
Commonly2
- Vascular pathology related to hypertension was most commonly encountered followed by diabetic kidney disease. (ijpmonline.org)
- Increased neurofilament levels in biofluids, commonly used as a proxy for axonal degeneration in the brain, have been found in Parkinson's disease (PD), PD with dementia (PDD) and dementia with Lewy bodies (DLB), and correlate with MRI biomarkers. (biorxiv.org)
Bulky disease1
- In addition, about 30% of the study population had bulky disease with lymph node mass greater than or equal to 5cm. (ecancer.org)
Kidney diseases1
- To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world. (asn-online.org)
Autoimmune disease1
- Liver disease, autoimmune disease, chronic viral or bacterial infections and various malignancies may cause a polyclonal rise in the gamma fraction (see Table 2 below). (medscape.com)
Alpha heavy c3
- Alpha heavy chain disease (IgA heavy chain disease) affects mainly younger adults of Middle Eastern or Mediterranean ancestry. (msdmanuals.com)
- Doctors do blood tests when they suspect alpha heavy chain disease. (msdmanuals.com)
- Alpha heavy chain disease progresses rapidly, and some affected people die within 1 to 2 years. (msdmanuals.com)
Congenital1
- Central core disease (CCD) is a rare congenital myopathy. (bmj.com)
Syndrome4
- Ria R, Dammacco F, Vacca A. Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. (medscape.com)
- Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. (medlineplus.gov)
- They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. (medlineplus.gov)
- The outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been followed by many reports of the development and relapse of autoimmune diseases associated with SARS-CoV-2 vaccina. (biomedcentral.com)
Genes2
- Raro trastorno congénito del tejido linfático debido a mutaciones en ciertos genes de la vía del ligando Fas-Fas. (bvsalud.org)
- Las causas conocidas incluyen mutaciones en los genes de las proteínas FAS, TNFSF6, ANR, CASP8 y CASP10. (bvsalud.org)
Progresses1
- The disease usually progresses slowly. (medscape.com)
Phenotypes1
- Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
Polymerase1
- The global " Polymerase Chain Reaction (PCR) Market Industry " is expected to reach USD 8.14 billion by 2026, on account of the advent of digitalization and the gradual shift from traditional PCR to digital PCR for diagnostics purposes. (medgadget.com)
Lymphoma1
- Mu heavy chain disease with MYD88 L265P mutation: an unusual manifestation of lymphoplasmacytic lymphoma. (medscape.com)
Acute1
- In particular, he focuses on regenerative processes that can be enhanced to mitigate a variety of acute and chronic disease conditions. (mayo.edu)
Nephropathy1
- Cast nephropathy in mu heavy chain disease. (medscape.com)
Proliferative4
- Franklin's disease (gamma heavy chain disease) It is a very rare B-cell lymphoplasma cell proliferative disorder which may be associated with autoimmune diseases and infection is a common characteristic of the disease. (wikipedia.org)
- These categories are disseminated lymphoproliferative disease, localized proliferative disease and no apparent proliferative disease. (wikipedia.org)
- Localized proliferative disease is found in approximately 25% of γHCD patients. (wikipedia.org)
- No apparent proliferative disease is seen in 9-17% of patients with γHCD, and there is almost always an underlying autoimmune disorder. (wikipedia.org)
Gamma chain1
- There are four forms: alpha chain disease (Seligmann's disease) gamma chain disease (Franklin's disease) mu chain disease delta chain disease The most common type of heavy chain disease is the IgA type, known as αHCD. (wikipedia.org)
Lymphocyte2
- A lymphocyte count above 100 is a possibility in this type of leukemia but such a high value it does not seem to be related to the severity of the disease. (mrlabtest.com)
- Which diseases can increase your lymphocyte count in the blood? (mrlabtest.com)
