Common Variable Immunodeficiency malady
Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases
Aliases & Descriptions for Common Variable Immunodeficiency:
Orphanet epidemiological data:52
common variable immunodeficiency:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases
ICD10: 29 28
Rare immunological diseases
NIH Rare Diseases:46 Common variable immunodeficiency (cvid) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). cvid is characterized by low levels of most or all of the immunoglobulin (ig) classes. this causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. symptoms most commonly begin in early adulthood but have been found in children as young as age two. while in most cases the cause of cvid is unknown, it has been associated with changes (mutations) in at least 10 genes. about 10% of cases are due to mutations in the tnfrsf13b gene. treatment for cvid includes ig replacement therapy, which stops the cycle of recurrent infections. last updated: 3/14/2016
MalaCards based summary: Common Variable Immunodeficiency, also known as cvid, is related to immunodeficiency, common variable, 1 and hemolytic anemia, and has symptoms including sinusitis, otitis media and thrombocytopenia. An important gene associated with Common Variable Immunodeficiency is TNFRSF13C (TNF Receptor Superfamily Member 13C), and among its related pathways are Interleukin-1 processing and Hematopoietic cell lineage. Affiliated tissues include lung, b cells and t cells, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.
Disease Ontology:11 A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low ig levels with phenotypically normal b cells that can proliferate but do not develop into ig-producing cells. patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin g (igg) and immunoglobulin a (iga); about half of these patients also have reduced immunoglobulin m (igm).
Genetics Home Reference:24 Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.
Wikipedia:69 Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and... more...
Symptoms:52 (show all 26)
HPO human phenotypes related to Common Variable Immunodeficiency:(show all 20)
Drugs for Common Variable Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 38)
Interventional clinical trials:(show all 43)
Search NIH Clinical Center for Common Variable Immunodeficiency
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Common Variable Immunodeficiency cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Common Variable Immunodeficiency:
Embryonic/Adult Cultured Cells Related to Common Variable Immunodeficiency:
MalaCards organs/tissues related to Common Variable Immunodeficiency:34
Lung, B cells, T cells, Spleen, Lymph node, Bone, Bone marrow
MGI Mouse Phenotypes related to Common Variable Immunodeficiency:39
Articles related to Common Variable Immunodeficiency:(show top 50) (show all 729)
Search GEO for disease gene expression data for Common Variable Immunodeficiency.
Pathways related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:(show all 42)
Cellular components related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:
Biological processes related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet