Heavy chain disease. Medical search. Frequent questions

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)

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)

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)

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)

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)

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)

Mu-heavy chain disease: presentation as a benign monoclonal gammopathy. (medscape.com)

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)

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)

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)

Defects in ferritin proteins are associated with several neurodegenerative diseases. (thermofisher.com)

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)

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)

Failure of the PN is associated with broad range of diseases including cancer, neurodegeneration, and immunological and metabolic disorders [ 1 ]. (hindawi.com)

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)

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)

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)

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)

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)

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)

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)

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)

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)

BRG1 is activated in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and MHC changes. (ca.gov)

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)

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)

Courtois L, Sujobert P. Morphologic features of μ-heavy-chain disease. (medscape.com)

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)

Idiotypes may represent amino acid sequences located on light or heavy chains alone or in combination. (bmj.com)

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)

Lymphomas are part of the broad group of diseases called hematological neoplasms. (newworldencyclopedia.org)

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)

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)

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)

In addition, about 30% of the study population had bulky disease with lymph node mass greater than or equal to 5cm. (ecancer.org)

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)

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 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)

Central core disease (CCD) is a rare congenital myopathy. (bmj.com)

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)

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)

The disease usually progresses slowly. (medscape.com)

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)

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)

Mu heavy chain disease with MYD88 L265P mutation: an unusual manifestation of lymphoplasmacytic lymphoma. (medscape.com)

In particular, he focuses on regenerative processes that can be enhanced to mitigate a variety of acute and chronic disease conditions. (mayo.edu)

Cast nephropathy in mu heavy chain disease. (medscape.com)

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)

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)

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)

Diseases3

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Centers for Diseas3

Amyloidosis4

Antibody4

Immunoglobulin heavy7

Renal disease4

Protein6

Monoclonal gammopathy1

Deposition2

Polypeptide2

Immunoglobulins1

Neurodegenerative diseases1

Bone marrow3

Myosin6

Disorders1

Axonemal heavy1

Gene6

Abnormal3

Small intestine1

Locus1

Autosomal dominant1

Systemic lupus erythem1

Proteins3

Slow the progression of the disease2

Patients with hypertrophic cardiomyopathy1

Genetic2

Hypertrophic cardiomyopathy1

Morphologic1

Nephrotic syndrome1

Sequences1

Lymphocytosis1

Neoplasms1

Plasma4

Light7

Commonly2

Bulky disease1

Kidney diseases1

Autoimmune disease1

Alpha heavy c3

Congenital1

Syndrome4

Genes2

Progresses1

Phenotypes1

Polymerase1

Lymphoma1

Acute1

Nephropathy1

Proliferative4

Gamma chain1

Lymphocyte2