CVID
MCID: CMM004
MIFTS: 67

Common Variable Immunodeficiency (CVID) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Common Variable Immunodeficiency

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NIH Rare Diseases:42 Common variable immunodeficiency (cvid) is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that cause infection. the main feature that separates cvid from other immunodeficiencies is low levels of two specific antibodies, immunoglobulin a (iga) and immunoglobulin g (igg). people with cvid get more 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, the condition has been associated with mutations in at least 10 genes. about 10% of affected people have mutations in the tnfrsf13b gene. the main treatment for cvid is ig replacement therapy, which stops the cycle of recurrent infections. last updated: 9/15/2014

MalaCards based summary: Common Variable Immunodeficiency, also known as common variable immune deficiency, is related to interstitial lung disease and autoimmune hemolytic anemia. An important gene associated with Common Variable Immunodeficiency is TNFRSF13C (tumor necrosis factor receptor superfamily, member 13C), and among its related pathways are RANK Signaling in Osteoclasts and TRAF Pathway. The compounds baff and sulfolipid i have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and t cells, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Disease Ontology:8 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:21 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:65 Common variable immunodeficiency (CVID) is the most commonly diagnosed primary immunodeficiency. It is... more...

Descriptions from OMIM:46 613494, 613496, 607594, 240500, 613493 613495 more

Aliases & Classifications for Common Variable Immunodeficiency

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Common Variable Immunodeficiency, Aliases & Descriptions:

Name: Common Variable Immunodeficiency 30 8 42 21 10 44 62
Common Variable Immune Deficiency 42 20 21 62
Cvid 8 42 21
Common Variable Hypogammaglobulinemia 21 62
Common Variable Agammaglobulinemia 8 22
Acquired Hypogammaglobulinemia 8 62
Common Variable Hypogamma-Globulinemia 42
 
Immunoglobulin Deficiency, Late-Onset 42
Combined Variable Immune Deficiency 42
Common Variable Agammaglobulinaemia 62
Immunodeficiency, Common Variable 21
Hypogamma-Globulinemia, Acquired 42
Sporadic Hypogammaglobulinemia 8
Acquired Agammaglobulinemia 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


External Ids:

Disease Ontology8 DOID:12177
NCIt39 C26725
SNOMED-CT57 191010004, 23238000
MeSH34 D017074
ICD9CM27 279.06

Related Diseases for Common Variable Immunodeficiency

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Diseases related to Common Variable Immunodeficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 253)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease31.2CD79A
2autoimmune hemolytic anemia30.8CD40LG, CD79A
3lupus erythematosus30.8CD40LG, CD79A
4systemic lupus erythematosus30.7CD27, TNFSF13B
5agammaglobulinemia30.5SH2D1A, CD79A, CD40LG
6infectious mononucleosis30.4CD40LG, CD79A, SH2D1A
7toxoplasmosis30.3CD79A, CD40LG
8polyneuropathy30.2CD40LG, CD79A
9nephritis29.8CD40LG, CD79A, TNFSF13B
10multiple sclerosis29.8TNFRSF13B, TNFRSF13C, TNFSF13B, CD27
11leukemia29.7SH2D1A, VPREB1, CD27, CD79A, CD40LG
12vasculitis29.6CD40LG, CD79A, SH2D1A, TNFSF13B
13non-hodgkin lymphoma29.5TNFRSF13B, TNFRSF13C, TNFSF13B, SH2D1A, CD27
14rheumatoid arthritis29.5CD40LG, CD79A, CD27, TNFSF13B, TNFRSF13C
15immunodeficiency, common variable, 310.6
16pneumonia10.6
17hepatitis10.6
18purpura10.6
19hemolytic anemia10.5
20bronchiectasis10.5
21retinitis10.5
22sarcoidosis10.5
23arthritis10.5
24meningitis10.5
25hepatitis c10.4
26amyloidosis10.4
27colitis10.4
28primary agammaglobulinemia10.4TNFRSF13B, TNFRSF13C
29q fever10.4CD79A
30syphilis10.3CD79A
31cr2-related common variable immune deficiency10.3
32cd19-related common variable immune deficiency10.3
33icos-related common variable immune deficiency10.3
34tnfrsf13b-related common variable immune deficiency10.3
35tnfrsf13c-related common variable immune deficiency10.3
36alopecia10.3
37asthma10.3
38celiac disease10.3
39myelitis10.3
40autoimmune lymphoproliferative syndrome10.3
41evans' syndrome10.3
42strongyloidiasis10.3
43giardiasis10.3
44diarrhea10.3
45encephalitis10.3
46herpes simplex10.3
47influenza10.3
48t cell deficiency10.3
49uveitis10.3
50nodular regenerative hyperplasia10.3

Graphical network of the top 20 diseases related to Common Variable Immunodeficiency:



Diseases related to common variable immunodeficiency

Symptoms for Common Variable Immunodeficiency

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Clinical features from OMIM:

613494,613496,607594,240500,613493,613495

Drugs & Therapeutics for Common Variable Immunodeficiency

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Drug clinical trials:

Search ClinicalTrials for Common Variable Immunodeficiency

Search NIH Clinical Center for Common Variable Immunodeficiency

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Common Variable Immunodeficiency cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Common Variable Immunodeficiency:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Common Variable Immunodeficiency:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Common Variable Immunodeficiency

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Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Immune Deficiency20 TNFRSF13C
2 Common Variable Agammaglobulinemia22

Anatomical Context for Common Variable Immunodeficiency

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MalaCards organs/tissues related to Common Variable Immunodeficiency:

32
B cells, Lung, T cells, Lymph node, Spleen, Liver, Bone, Monocytes, Testes, Bone marrow, Whole blood, Brain, Smooth muscle, Small intestine, Skin, Neutrophil

Animal Models for Common Variable Immunodeficiency or affiliated genes

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MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.8CD79A, ICOS, SH2D1A, TNFRSF13C, TNFRSF13B, CD40LG
2MP:00053976.0TNFRSF13B, CD40LG, CD79A, CD27, ICOS, VPREB1
3MP:00053875.8TNFRSF13B, TNFRSF13C, TNFSF13B, SH2D1A, VPREB1, ICOS

Publications for Common Variable Immunodeficiency

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Articles related to Common Variable Immunodeficiency:

(show top 50)    (show all 635)
idTitleAuthorsYear
1
Celiac disease and common variable immunodeficiency: a familial inheritance? (24369335)
2013
2
AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency. (23731676)
2013
3
Quantification of IgM and IgA anti-pneumococcal capsular polysaccharides by a new ELISA assay: a valuable diagnostic and prognostic tool for common variable immunodeficiency. (23274802)
2013
4
Germline mutations in NFKB2 implicate the noncanonical NF-I_B pathway in the pathogenesis of common variable immunodeficiency. (24140114)
2013
5
The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. (22526591)
2012
6
Common variable immunodeficiency presenting with persistent parvovirus B19 infection. (23129076)
2012
7
Health related quality of life in common variable immunodeficiency. (22477006)
2012
8
Expression of essential B cell development genes in horses with common variable immunodeficiency. (22464097)
2012
9
Genome-wide association identifies diverse causes of common variable immunodeficiency. (21497890)
2011
10
Cell-mediated immune responses to inactivated trivalent influenza-vaccination are decreased in patients with common variable immunodeficiency. (21889412)
2011
11
Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. (20629103)
2011
12
Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency. (21905497)
2011
13
Hyper-IgM, neutropenia, mild infections and low response to polyclonal stimulation: hyper-IgM syndrome or common variable immunodeficiency? (22230404)
2011
14
Analysis of bulk and virus-specific CD8+ T cells reveals advanced differentiation of CD8+ T cells in patients with common variable immunodeficiency. (21873117)
2011
15
Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. (20945602)
2010
16
A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders. (20299624)
2010
17
Detection of pulmonary complications in common variable immunodeficiency. (19912551)
2010
18
Toll-like receptor-9 gene polymorphism in common variable immunodeficiency. (20635795)
2010
19
Characterization of lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive human B cells marked by CD24 expression. (21041728)
2010
20
Common variable immunodeficiency: a heterogeneous group needs further subclassification. (20477686)
2009
21
Common variable immunodeficiency with regulatory T-cell deficiency treated with rapamycin. (19230472)
2009
22
Burkitt lymphoma in the setting of common variable immunodeficiency. (19252909)
2009
23
The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency. (19426217)
2009
24
Gastric adenocarcinoma occurring in a young patient with common variable immunodeficiency syndrome. (19551296)
2009
25
T-cell homeostasis: the dark(ened) side of common variable immunodeficiency. (18606891)
2008
26
Response to polysaccharide vaccination amongst pediatric patients with common variable immunodeficiency correlates with clinical disease. (19052353)
2008
27
Genetic defects in common variable immunodeficiency. (17627754)
2007
28
Mortality and morbidity in common variable immunodeficiency. (17166933)
2007
29
Deconstructing common variable immunodeficiency by genetic analysis. (17467261)
2007
30
Effect of regular intravenous immunoglobulin therapy on prevention of pneumonia in patients with common variable immunodeficiency. (16604243)
2006
31
Aggressive natural killer cell leukemia in a patient with common variable immunodeficiency syndrome. (16785152)
2006
32
Elevated levels of activated CD4 T cells in common variable immunodeficiency: association with clinical findings. (16854344)
2006
33
Lymphocytic interstitial pneumonia associated with common variable immunodeficiency resolved with intravenous immunoglobulins. (17114373)
2006
34
Intestinal strongyloidiasis and common variable immunodeficiency syndrome. (15876606)
2005
35
Abnormal interleukin-7 function in common variable immunodeficiency. (15598813)
2005
36
The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. (15696104)
2005
37
Normal ICOS, ICOSL and AID alleles in Danish patients with common variable immunodeficiency. (15963052)
2005
38
Chlamydia pneumoniae arthritis in a patient with common variable immunodeficiency. (15875533)
2005
39
Successful treatment with cyclosporine A of HCV-driven chronic liver disease mimicking autoimmune hepatitis in a patient with common variable immunodeficiency. (16435575)
2005
40
Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. (15232313)
2004
41
Common variable immunodeficiency syndrome with right aortic arch: a case report. (15005811)
2004
42
Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity. (12574940)
2003
43
Enhanced apoptosis of T cells in common variable immunodeficiency (CVID): role of defective CD28 co-stimulation. (10844530)
2000
44
Retinal vasculitis occurring with common variable immunodeficiency syndrome. (10682991)
2000
45
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
46
IL-10 production in common variable immunodeficiency. (9557163)
1998
47
Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis. (9462277)
1997
48
A case of common variable immunodeficiency associated with cyclic thrombocytopenia. (7871984)
1994
49
An unusual T-cell surface phenotype in vivo correlates with the failure to proliferate and produce IL-2 in vitro in a patient with common variable immunodeficiency. (1280540)
1992
50
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. (1645668)
1991

Variations for Common Variable Immunodeficiency

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Expression for genes affiliated with Common Variable Immunodeficiency

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Expression patterns in normal tissues for genes affiliated with Common Variable Immunodeficiency

Search GEO for disease gene expression data for Common Variable Immunodeficiency.

Pathways for genes affiliated with Common Variable Immunodeficiency

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Pathways related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling60
9.0TNFSF13B, TNFRSF13C, TNFRSF13B
2
Show member pathways
9.0TNFRSF13B, TNFRSF13C, TNFSF13B
3
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
8.9CD40LG, CD79A, ICOS
48.8CD40LG, TNFSF13B, TNFRSF13C
5
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
8.8CD40LG, TNFSF13B, TNFRSF13B
68.6CD79A, SH2D1A, TNFSF13B
78.3CD40LG, CD79A, ICOS, TNFRSF13C, TNFRSF13B
8
Show member pathways
8.1TNFRSF13B, TNFRSF13C, TNFSF13B, ICOS, CD40LG
9
Show member pathways
8.0TNFRSF13B, TNFRSF13C, TNFSF13B, CD27, CD40LG
10
Show member pathways
8.0TNFRSF13B, TNFRSF13C, TNFSF13B, CD27, CD40LG

Compounds for genes affiliated with Common Variable Immunodeficiency

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Sources:
28IUPHAR, 44Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1baff2810.2TNFRSF13C, TNFRSF13B
2sulfolipid i449.7CD79A, CD40LG
3sandoglobulin449.7CD40LG, CD79A
4fluconazole44 1110.7CD79A, SH2D1A
5gamma globulin449.7CD40LG, CD79A
6vancomycin44 1110.7CD40LG, CD79A
7pneumococcal449.7CD79A, CD40LG
8tuberculin449.7CD40LG, CD79A
9praziquantel44 1110.7CD79A, CD40LG
10hemocyanin449.7CD40LG, CD79A
11gliadin449.7CD40LG, CD79A
12pmma449.7CD40LG, CD79A
13silicone449.7CD79A, CD40LG
14mannan449.6CD40LG, CD79A
15okt3449.6CD79A, CD40LG
16glutaraldehyde449.6CD40LG, CD79A
17sulfasalazine28 44 50 1112.6CD79A, CD40LG
18cardiolipin44 1110.6CD40LG, CD79A
19valproate449.6CD40LG, CD79A
20mycophenolate mofetil44 50 1111.6CD79A, CD40LG
21phenytoin44 50 28 1112.5CD40LG, CD79A
22anti-fungal449.5CD79A, CD40LG
23ivig449.5CD40LG, CD79A
24doxycycline44 1110.4CD40LG, CD79A
25vitamin b12449.4CD79A, CD40LG
26neopterin449.3CD40LG, CD79A
27theophylline44 28 24 1112.3CD40LG, CD79A
28cytidine44 24 1111.3CD40LG, CD79A, ICOS
29allergens449.2CD79A, CD40LG
30bcma448.9TNFRSF13B, TNFRSF13C, TNFSF13B, CD27
31rituximab44 50 1110.9TNFSF13B, CD79A, CD40LG
32blys448.3CD40LG, CD79A, TNFSF13B, TNFRSF13C, TNFRSF13B
33calcium44 50 24 1110.7CD27, SH2D1A, TNFSF13B, TNFRSF13C, TNFRSF13B

GO Terms for genes affiliated with Common Variable Immunodeficiency

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Cellular components related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.7CD40LG, CD27, ICOS, TNFRSF13B
2external side of plasma membraneGO:0098977.5CD40LG, TNFRSF13B, TNFRSF13C, ICOS, CD27, CD79A

Biological processes related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1B cell costimulationGO:0312969.5TNFSF13B, TNFRSF13C
2positive regulation of germinal center formationGO:0026369.5TNFRSF13C, TNFSF13B
3B cell proliferationGO:0421009.3CD40LG, CD79A
4B cell differentiationGO:0301839.3CD40LG, CD79A
5immunoglobulin secretionGO:0483059.3TNFSF13B, CD40LG
6positive regulation of B cell proliferationGO:0308909.3TNFSF13B, TNFRSF13C
7B cell homeostasisGO:0017829.2TNFSF13B, TNFRSF13C, TNFRSF13B
8positive regulation of T cell proliferationGO:0421029.1TNFSF13B, TNFRSF13C
9T cell costimulationGO:0312959.0TNFRSF13C, TNFSF13B, ICOS

Molecular functions related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor receptor bindingGO:0051649.1CD40LG, TNFSF13B

Products for genes affiliated with Common Variable Immunodeficiency

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Sources for Common Variable Immunodeficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet