CVID
MCID: CMM004
MIFTS: 66

Common Variable Immunodeficiency (CVID) malady

Immune diseases category

Summaries for Common Variable Immunodeficiency

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Common variable immunodeficiency is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that may cause infection.  the main features that separate cvid from other immunodeficiencies are low levels of two specific antibodies, immunoglobulin a (iga) and immunoglobulin g (igg).  individuals with this condition develop more frequent infections, particularly in the sinuses, lungs, and digestive tract.   cvid symptoms most commonly begin in early adulthood, but have been found in children as young as two years.  though some cases of cvid are caused by known genetic factors, the cause of most cases is unknown.   cvid can sometimes be treated by "replacing" antibodies into the body; this treatment is called "immunoglobulin therapy".  last updated: 10/25/2010

MalaCards: Common Variable Immunodeficiency, also known as common variable agammaglobulinemia, is related to pneumonia and purpura. An important gene associated with Common Variable Immunodeficiency is MSH5 (mutS homolog 5), and among its related pathways are Primary immunodeficiency and TNF Signaling. The compounds blys and bcma have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and lung, and related mouse phenotypes are hematopoietic system and immune 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).

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

Aliases & Classifications for Common Variable Immunodeficiency

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 22GTR, 30LifeMap Discovery™, 60UMLS, 39NCIt, 27ICD9CM, 46OMIM, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


Aliases & Descriptions:

common variable immunodeficiency 8 42 30 60
common variable agammaglobulinemia 8 22
acquired hypogammaglobulinemia 8 60
cvid 8 42
common variable hypogamma-globulinemia 42
immunoglobulin deficiency, late-onset 42
hypogamma-globulinemia, acquired 42
sporadic hypogammaglobulinemia 8
acquired agammaglobulinemia 8


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Disease Ontology8 DOID:12177
NCIt39 C26725
ICD9CM27 279.06
SNOMED-CT56 191010004, 23238000
MeSH34 D017074

Related Diseases for Common Variable Immunodeficiency

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Sources:
17GeneCards, 18GeneDecks
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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 274)
idRelated DiseaseScoreTop Affiliating Genes
1pneumonia30.8MBL2, BTK, CD79A, IL2RB, SELL
2purpura30.7CD79A
3hepatitis30.7CD40LG, IL2RB, SELL
4common variable immune deficiency30.7ICOS, TNFRSF13C, TNFRSF13B
5interstitial lung disease30.6CD79A
6meningitis30.6CD79A, MBL2
7sarcoidosis30.6CD86, CD27, CD28, IL2RB, IL2
8arthritis30.6IL2RB, IL4, CD86
9autoimmune hemolytic anemia30.6CD40LG, CD79A
10bronchiectasis30.6CD79A, MBL2
11agammaglobulinemia30.5IL2, IL4, CD79A, CD40LG, BTK, SH2D1A
12systemic lupus erythematosus30.5CD27, TNFSF13B
13lupus erythematosus30.5CD79A, CD40LG
14celiac disease30.5CD79A
15hepatitis c30.5TNFSF13B, CD40LG, CD28, IL4, IL2
16asthma30.4MBL2, TNFSF13B, AICDA, SELL, IL4, CD28
17influenza30.4MBL2, CD86, CD27, CD79A, CD28, IL2RB
18uveitis30.4IL4
19diarrhea30.4IL2, CD79A
20herpes simplex30.4CD79A
21infectious mononucleosis30.4SH2D1A, CD40LG, CD79A, IL2RB
22rheumatoid arthritis30.3SELL, IL2, IL2RB, IL4, CD28, CD79A
23leukemia30.3BTK, AICDA, SH2D1A, VPREB1, MBL2, CD86
24thrombocytopenia30.3AICDA, CD40LG, CD79A, IL2
25hodgkin's lymphoma30.3TNFSF13B, SH2D1A, AICDA, CD28, IL2RB, IL2
26neutropenia30.3MBL2, BTK
27hypertension30.3CD79A
28inflammatory bowel disease30.3SELL, IL4, CD28, CD86
29non-hodgkin lymphoma30.1TNFSF13B, TNFRSF13C, TNFRSF13B, SH2D1A, SELL, IL2
30multiple sclerosis30.1IL2, IL2RB, IL4, CD28, CD27, CD86
31vasculitis30.1MBL2, TNFSF13B, SH2D1A, CD40LG, CD79A, SELL
32rhinitis30.1IL4, CD79A
33allergic rhinitis30.1MBL2, IL4
34dermatitis30.1IL4, CD79A
35severe combined immunodeficiency30.1IL4, IL2RB, IL2
36pemphigus30.1CD79A
37gastritis30.1CD79A
38deficiency anemia30.1IL2, CD79A
39wiskott-aldrich syndrome30.1SH2D1A, BTK, CD28
40encephalomyelitis30.1TNFSF13B, CD86, IL4, IL2
41allergic asthma30.1AICDA, CD86, IL4, IL2RB, SELL
42glomerulonephritis30.1MBL2, CD40LG, CD79A, CD28
43cystic fibrosis30.1MBL2
44leishmaniasis30.1IL4
45ulcerative colitis30.1CD86, CD79A, CD28, IL4, SELL
46nephrotic syndrome30.1CD79A
47myocardial infarction30.1SELL
48aspergillosis30.1CD79A, MBL2
49hepatocellular carcinoma30.1AICDA, CD86
50acquired immunodeficiency syndrome30.0IL2

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



Diseases related to common variable immunodeficiency

Clinical Features for Common Variable Immunodeficiency

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46OMIM
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Clinical features from OMIM:

613493,613494,613495,240500,607594,613496

Drugs & Therapeutics for Common Variable Immunodeficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™
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Approved drugs:

Search CenterWatch for Common Variable Immunodeficiency

Drug clinical trials:

Search ClinicalTrials for Common Variable Immunodeficiency

Search NIH Clinical Center for Common Variable Immunodeficiency

Search CenterWatch 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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Sources:
22GTR
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Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Agammaglobulinemia22

Anatomical Context for Common Variable Immunodeficiency

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Sources:
32MalaCards
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MalaCards organs/tissues related to Common Variable Immunodeficiency:

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

Animal Models for Common Variable Immunodeficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.7ICOS, IL2, IL2RB, IL4, CD28, CD79A
2MP:000538710.7ICOS, SELL, IL2, IL2RB, IL4, CD28
3MP:000538410.6SH2D1A, TNFRSF13B, TNFSF13B, TNFRSF13C, VPREB1, ICOS
4MP:000537610.5ICOS, MBL2, TNFRSF13C, TNFRSF13B, SH2D1A, BTK
5MP:001077110.5SELL, CD40LG, BTK, AICDA
6MP:000537910.4CD86, CD40LG, IL4, IL2RB, IL2, MSH5
7MP:000200610.2TNFRSF13B, AICDA, BTK, CD28, IL2

Publications for Common Variable Immunodeficiency

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50PubMed
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Articles related to Common Variable Immunodeficiency:

(show top 50)    (show all 618)
idTitleAuthorsYear
1
Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. (24247002)
2014
2
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. (23403051)
2013
3
Common variable immunodeficiency: crossroads between infections, inflammation and autoimmunity. (23219764)
2013
4
Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum. (23753020)
2013
5
CD21 deficiency, complement, and the development of common variable immunodeficiency. (22277200)
2012
6
Fulminant invasive pulmonary mucormycosis with Rhizopus oryzae in a patient with severe aplastic anaemia and common variable immunodeficiency. (21914004)
2012
7
Autoimmune cytopenias in common variable immunodeficiency. (22837758)
2012
8
Optimal use of ivig in a patient with BehAset syndrome and common variable immunodeficiency. (22727170)
2012
9
Management of a pregnant woman with common variable immunodeficiency and previous reactions to intravenous IgG administration. (23257273)
2012
10
Organizing pneumonia associated with common variable immunodeficiency. (22932209)
2012
11
Cutaneous polyarteritis nodosa and common variable immunodeficiency: a previously unreported association. (22260879)
2012
12
Generalized skin lesions in a patient with common variable immunodeficiency. (23101193)
2012
13
Health policy for common variable immunodeficiency: burden of the disease. (21995178)
2011
14
Common variable immunodeficiency associated with hepatosplenic T-cell lymphoma mimicking juvenile systemic lupus erythematosus. (21776287)
2011
15
Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. (20945602)
2010
16
Characterization of lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive human B cells marked by CD24 expression. (21041728)
2010
17
Association of FcRn expression with lung abnormalities and IVIG catabolism in patients with common variable immunodeficiency. (20627700)
2010
18
The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. (20551941)
2010
19
Common variable immunodeficiency mimicking granulomatous diseases needs to fulfill diagnostic criteria. Commentary to the article of Modrzewska K. et al. "Common variable immunodeficiency in a patient with suspected sarcoidosis"]. (20162525)
2010
20
Autoimmunity in common variable immunodeficiency. (19671377)
2009
21
Dissecting the group of common variable immunodeficiency disorders. (19807274)
2009
22
Sarcoid-like granulomas in common variable immunodeficiency. (19326121)
2009
23
Response to polysaccharide vaccination amongst pediatric patients with common variable immunodeficiency correlates with clinical disease. (19052353)
2008
24
Common variable immunodeficiency: an update on etiology and management. (18424338)
2008
25
Flowcytometric phenotyping of common variable immunodeficiency. (18561200)
2008
26
A case of severe recurrent hepatitis with common variable immunodeficiency. (18021227)
2008
27
Extensive nodular lymphoid hyperplasia of the small intestine in common variable immunodeficiency. (17912195)
2007
28
Common variable immunodeficiency: an uncommon disease with high mortality. (17941331)
2007
29
Benefit of pegylated interferon-alpha-2a/ribavirin in a patient with common variable immunodeficiency and hepatitis C virus cirrhosis after liver transplantation and splenic embolization. (16858295)
2006
30
Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation? (16763458)
2006
31
Common variable immunodeficiency patient with large granular lymphocytosis developing extranodal diffuse large B-cell lymphoma: a case report. (17194667)
2006
32
Crohn's disease in common variable immunodeficiency: treatment with antitumor necrosis factor alpha. (16968516)
2006
33
Spectrum of illness in pediatric common variable immunodeficiency. (17165275)
2006
34
Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. (16328471)
2006
35
The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. (15696104)
2005
36
Hypercalcemia in a patient with common variable immunodeficiency and renal granulomas. (15861342)
2005
37
Granulomatous disease in common variable immunodeficiency. (16091208)
2005
38
TACI is mutant in common variable immunodeficiency and IgA deficiency. (16007086)
2005
39
Successful anti-CD20 monoclonal antibody treatment of severe autoimmune hemolytic anemia due to warm reactive IgM autoantibody in a child with common variable immunodeficiency. (15164382)
2004
40
Absence of memory B cells in patients with common variable immunodeficiency. (11987983)
2002
41
Giant cell myocarditis in a 12-year-old girl with common variable immunodeficiency. (11795251)
2002
42
Long term recovery of IgG and IgM production during HIV infection in a patient with common variable immunodeficiency (CVID). (11533080)
2001
43
Defective surface expression of attractin on T cells in patients with common variable immunodeficiency (CVID). (11168005)
2001
44
Molecular characterization of common variable immunodeficiency-related lymphomas. (11692905)
2001
45
Two novel cationic staphylococcal proteins induce IL-2 secretion, proliferation and immunoglobulin synthesis in peripheral blood mononuclear cells (PBMC) of both healthy controls and patients with common variable immunodeficiency (CVID). (7774050)
1995
46
Immunodeficiency syndromes. X-linked agammaglobulinemia, common variable immunodeficiency, ChAcdiak-Higashi syndrome, Wiskott-Aldrich syndrome, and X-linked lymphoproliferative disorder. (7712652)
1995
47
Effects of interleukin 2 therapy in patients with common variable immunodeficiency (CVID). (8167730)
1993
48
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
49
Defects in proliferative responses of T cells from patients with common variable immunodeficiency on direct activation of protein kinase C. (1863999)
1991
50
Alopecia totalis and vitiligo in common variable immunodeficiency. (2062780)
1991

Genetic Variations for Common Variable Immunodeficiency

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Expression for genes affiliated with Common Variable Immunodeficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
29KEGG, 55SinoBiological, 52R&D Systems, 51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5CD79A, ICOS, TNFRSF13C, TNFRSF13B, AICDA, BTK
2
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10.5TNFRSF13C, TNFSF13B, TNFRSF13B, BTK, CD40LG, CD27
3
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10.5ICOS, TNFRSF13C, TNFSF13B, TNFRSF13B, AICDA, CD86
4
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10.5TNFRSF13C, TNFSF13B, TNFRSF13B, BTK, CD27, CD28
5
Hide members
10.5BTK, TNFRSF13B, TNFSF13B, TNFRSF13C
6
Hide members
10.5TNFRSF13C, TNFSF13B, TNFRSF13B
7
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10.5IL4, CD28, BTK, TNFRSF13B, TNFSF13B, TNFRSF13C
8
Hide members
10.5IL2RB, CD28, BTK, TNFRSF13B, TNFSF13B, TNFRSF13C
910.5CD40LG, BTK, TNFSF13B, TNFRSF13C
1010.5TNFSF13B, SH2D1A, AICDA, BTK, CD79A, IL4
11
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
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10.5CD40LG, TNFRSF13B, TNFSF13B
12
Hide members
10.5ICOS, MBL2, BTK, CD86, CD40LG, CD79A
13
Hide members
10.5TNFRSF13C, TNFRSF13B, BTK, CD28, IL2RB
14
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10.5TNFRSF13C, TNFSF13B, BTK, IL4, IL2RB, IL2
15
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10.5ICOS, BTK, CD40LG, CD79A, CD28, IL4
16
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10.5IL2, IL4, CD79A, BTK, SH2D1A
1710.5ICOS, CD86, CD40LG, CD28, SELL
18
Hide members
10.5BTK, CD79A, IL4, IL2RB, IL2
19
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10.5ICOS, CD86, CD28, IL2RB, IL2
20
Hide members
10.5CD40LG, IL4, IL2
21
Immune response ICOS pathway in T-helper cell
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10.5CD28, CD86, ICOS
22
Hide members
10.5CD28, CD86, ICOS
2310.5IL4, CD40LG, AICDA
24
Hide members
10.5CD28, CD79A, CD86, BTK
25
Immune response NFAT in immune response
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10.5BTK, CD86, CD79A, CD28
26
Hide members
10.5SH2D1A, CD28, IL4, IL2RB, IL2
2710.5TNFSF13B, CD86, CD28
2810.5CD86, CD40LG, CD28, IL4, IL2RB, IL2
29
Hide members
10.5IL2, IL2RB, IL4
30
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10.5IL4, IL2RB, IL2
31
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10.5IL2, CD28, CD86
3210.5IL2, IL2RB, CD28, CD86
33
Hide members
10.5CD86, CD28, IL4

Compounds for genes affiliated with Common Variable Immunodeficiency

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 2BitterDB
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Compounds related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1blys4411.0TNFRSF13C, TNFSF13B, TNFRSF13B, CD40LG, CD79A
2bcma4410.9TNFRSF13C, TNFSF13B, TNFRSF13B, CD27
3ivig4410.9AICDA, BTK, CD40LG, CD79A, IL4, IL2RB
4neopterin4410.9MBL2, CD40LG, CD79A, IL4, IL2RB, IL2
5con a4410.9IL2, IL2RB, IL4, CD28, CD79A, MBL2
6histamine44 28 2412.9BTK, CD86, CD40LG, CD79A, IL4, IL2RB
7okt34410.9CD40LG, CD79A, IL4, IL2RB, IL2
8ionomycin4410.9BTK, CD40LG, CD28, IL4, IL2RB, IL2
9dexamethasone44 49 28 1113.9CD86, CD40LG, CD79A, SELL
10ctla4-ig4410.9IL2, IL2RB, CD28, CD86
11il-124410.9CD86, CD40LG, IL4, IL2
12tacrolimus44 49 1112.9CD86, CD79A, CD28, IL4, IL2RB, IL2
13cyclosporin a44 28 5912.9CD86, CD40LG, CD79A, CD28, IL4, IL2RB
14pge24410.9IL2
15biotin44 11 2412.9CD40LG, CD79A, IL4, IL2, SELL
16rantes4410.9MBL2, CD40LG, IL4, IL2RB, IL2, SELL
17mycophenolate mofetil44 49 1112.9CD40LG, CD79A, IL2RB, IL2
18prednisolone44 28 1112.9SELL, IL2, IL2RB, CD79A, MBL2
19cytidine44 11 2412.9CD79A, CD40LG, AICDA, ICOS
20rapamycin4410.9CD86, CD40LG, CD28, IL2RB, IL2, SELL
21thyroxine44 2411.9MBL2, CD40LG, CD79A, IL4, IL2RB
22herbimycin a44 5911.9CD40LG, CD28, IL4, IL2, SELL
23ribavirin44 49 1112.9MBL2, CD40LG, IL4, IL2
24lactose44 1111.9MBL2, CD40LG, IL2RB, SELL
25rituximab44 49 1112.9TNFSF13B, CD40LG, CD79A, IL2
26genistein44 28 59 2 11 2415.8BTK, CD40LG, CD28, IL2RB, IL2, SELL
27pentoxifylline44 1111.8SELL, IL2RB, IL4
28phosphatidylserine44 28 1112.8CD79A
29allergens4410.8IL4, CD79A, CD40LG, CD86
30daclizumab44 1111.8CD40LG, IL2RB, IL2
31tuberculin4410.8CD79A, CD40LG, MBL2
32aspirin44 49 28 2413.8CD40LG, CD79A, IL4, IL2RB, SELL
33praziquantel44 1111.8IL4, CD79A, CD40LG
34alemtuzumab44 1111.8CD40LG, IL2RB, IL2
35hemocyanin4410.8CD40LG, CD79A, IL4
36creatinine4410.8MBL2, TNFSF13B, CD40LG, CD79A, IL2RB, SELL
37vegf4410.8MBL2, CD79A, IL2RB, SELL
38azathioprine44 49 2 1113.8CD79A, IL4, IL2RB, IL2
39tyrosine4410.7MBL2, SH2D1A, BTK, CD86, CD28, IL4
40sulfolipid i4410.7CD40LG, CD79A
41tdac4410.7IL4, IL2
42r-il-24410.7IL2RB, IL2
43cycloheximide4410.7IL2RB, SELL
44polysaccharide4410.6SELL, IL2RB, CD79A, CD40LG, MBL2
45mannan4410.6MBL2, CD40LG, CD79A
46mycophenolic acid44 49 1112.6IL2, IL2RB, CD40LG
47baff2810.5TNFRSF13C, TNFRSF13B
48cysteine4410.5BTK, CD40LG, CD27, CD79A, CD28, IL4
49sandoglobulin4410.4CD40LG, CD79A
50fitc4410.2SELL, IL2RB, CD86

GO Terms for genes affiliated with Common Variable Immunodeficiency

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16Gene Ontology
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Cellular components related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00588610.5TNFSF13B, BTK, CD86, CD40LG, CD79A, CD28
2external side of plasma membraneGO:00989710.4SELL, ICOS, TNFRSF13C, TNFRSF13B, CD86, CD40LG
3integral to plasma membraneGO:00588710.2ICOS, TNFRSF13B, CD40LG, CD27, CD28, IL2RB

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1T cell costimulationGO:03129510.8CD28, CD86, TNFSF13B, TNFRSF13C, ICOS
2B cell costimulationGO:03129610.8TNFRSF13C, TNFSF13B, IL4
3positive regulation of B cell proliferationGO:03089010.8IL2, IL4, TNFSF13B, TNFRSF13C
4positive regulation of T cell proliferationGO:04210210.7IL4, CD28, TNFSF13B, TNFRSF13C
5positive regulation of isotype switching to IgG isotypesGO:04830410.7CD28, IL4, IL2
6B cell differentiationGO:03018310.7AICDA, CD40LG, CD79A, IL4
7immune responseGO:00695510.7ICOS, VPREB1, TNFSF13B, CD86, IL4, IL2
8B cell homeostasisGO:00178210.7TNFRSF13B, TNFSF13B, TNFRSF13C
9B cell activationGO:04211310.7BTK, CD86, CD79A
10positive regulation of germinal center formationGO:00263610.6TNFSF13B, TNFRSF13C
11immunoglobulin secretionGO:04830510.6CD40LG, TNFSF13B
12negative regulation of apoptotic processGO:04306610.6CD40LG, CD27, IL4, IL2RB, IL2
13positive regulation of B cell differentiationGO:04557910.5CD27, BTK
14positive regulation of interleukin-2 biosynthetic processGO:04508610.5CD28, CD86
15B cell proliferationGO:04210010.4CD40LG, CD79A
16regulation of immune responseGO:05077610.2SELL, IL4, CD40LG

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid bindingGO:04320810.5SELL, IL2
2cytokine activityGO:00512510.2IL2, IL4, CD40LG, TNFSF13B

Products for genes affiliated with Common Variable Immunodeficiency

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet