CVID
MCID: CMM014
MIFTS: 45

Common Variable Immune Deficiency (CVID) malady

Immune diseases category

Summaries for Common Variable Immune Deficiency

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21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Common variable immune deficiency (CVID) is a disorder that damages the immune system. Because their immune system cannot adequately protect them, people with CVID can develop recurrent infections in the lungs, sinuses, or ears. Over time, recurrent lung infections can lead to chronic lung disease and life-threatening breathing problems. Most people with CVID also have pneumonia at least once in their life. Affected individuals may also experience gastrointestinal problems, such as infections or inflammation. These problems can cause bloating, diarrhea, decreased absorption of nutrients, and weight loss. For reasons that are unclear, some people with CVID have enlarged lymph nodes or an enlarged spleen (splenomegaly).

MalaCards: Common Variable Immune Deficiency, also known as common variable immunodeficiency, is related to arthritis and agammaglobulinemia. An important gene associated with Common Variable Immune Deficiency is TNFRSF13C (tumor necrosis factor receptor superfamily, member 13C), and among its related pathways are Malaria and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. The compounds rantes and baff have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and spleen, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Wikipedia:63 Common variable immunodeficiency (CVID)) is a group of approximately 150 primary immunodeficiencies... more...

GeneReviews summary for cvid

Aliases & Classifications for Common Variable Immune Deficiency

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21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 19GeneReviews, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

common variable immune deficiency 19 20 21
common variable immunodeficiency 21 10 44 60
common variable hypogammaglobulinemia 21
combined variable immune deficiency 19
common variable agammaglobulinemia 21
immunodeficiency, common variable 21
cvid 19


Related Diseases for Common Variable Immune Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Common Variable Immune Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.6TNF, CTLA4
2agammaglobulinemia30.5CD19
3lupus erythematosus30.5TLR9
4celiac disease30.5CTLA4
5systemic lupus erythematosus30.5TLR9, CR2, CTLA4, TNF, TNFRSF13C, ICOS
6hepatitis30.4CTLA4
7influenza30.4TLR9
8asthma30.4CTLA4, TNF, TLR9
9crohn's disease30.3TNF
10leukemia30.3CD19, TNF, CR2
11rheumatoid arthritis30.2CTLA4, TNF, TNFRSF13C, TLR9, CD19
12sarcoidosis30.2TNF
13tuberculosis30.2TNF, TLR9
14allergic rhinitis30.0CTLA4
15non-hodgkin lymphoma30.0CR2, TNFRSF13C, CD19, TNFRSF13B
16dermatitis30.0CTLA4, TLR9
17allergic asthma30.0CTLA4, CR2, TLR9
18multiple sclerosis30.0TNFRSF13B, TNF, CTLA4, TNFRSF13C
19ulcerative colitis30.0TNF, CTLA4, TLR9
20common variable immunodeficiency11.5
21immunodeficiency, common variable, 910.6
22pneumonia10.6
23common variable immunodeficiency due to an intrinsic t cell defect10.5
24purpura10.5
25b cell deficiency10.4
26hemolytic anemia10.4
27interstitial lung disease10.4
28retinitis10.4
29bronchiectasis10.4
30autoimmune hemolytic anemia10.4
31t cell deficiency10.4
32autoimmune thrombocytopenic purpura10.4
33hepatitis c10.3
34hepatitis a10.3
35cr2-related common variable immune deficiency10.3
36cd19-related common variable immune deficiency10.3
37icos-related common variable immune deficiency10.3
38tnfrsf13b-related common variable immune deficiency10.3
39tnfrsf13c-related common variable immune deficiency10.3
40strongyloidiasis10.3
41autoimmune lymphoproliferative syndrome10.3
42evans' syndrome10.3
43diarrhea10.3
44herpes simplex10.3
45uveitis10.3
46x-linked disease10.3
47immunodeficiency, common variable, 110.3
48bronchiolitis10.2
49myelitis10.2
50inclusion body myositis10.2

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



Diseases related to common variable immune deficiency

Clinical Features for Common Variable Immune Deficiency

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Drugs & Therapeutics for Common Variable Immune Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Common Variable Immune Deficiency

Search NIH Clinical Center for Common Variable Immune Deficiency

Search CenterWatch for Common Variable Immune Deficiency

Genetic Tests for Common Variable Immune Deficiency

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20GeneTests
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Genetic tests related to Common Variable Immune Deficiency:

id Genetic test Affiliating Genes
1 Common Variable Immune Deficiency20 TNFRSF13C

Anatomical Context for Common Variable Immune Deficiency

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32MalaCards
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MalaCards organs/tissues related to Common Variable Immune Deficiency:

32
Lung, Lymph node, Spleen, B cells, Liver, T cells

Animal Models for Common Variable Immune Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Common Variable Immune Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2CD19, TNF, TNFRSF13B
2MP:00053817.7CTLA4, TNF, ICOS, CD19, TLR9
3MP:00053976.7TNFRSF13B, TNFRSF13C, ICOS, TLR9, TNF, CR2
4MP:00053846.7ICOS, TLR9, TNFRSF13C, CD19, CR2, CTLA4
5MP:00053766.6CD19, CTLA4, TNF, TNFRSF13C, ICOS, TLR9
6MP:00107686.5CR2, NCF4, TLR9, TNFRSF13B, TNF, CTLA4
7MP:00053876.2TNF, CTLA4, TNFRSF13B, CR2, TNFRSF13C, ICOS

Publications for Common Variable Immune Deficiency

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50PubMed
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Articles related to Common Variable Immune Deficiency:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
High-grade fever and pancytopenia in an adult patient with common variable immune deficiency. (24433602)
2014
2
Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation. (23389235)
2013
3
More common than you think: common variable immune deficiency. (24381771)
2013
4
Variability of memory B cell markers in a cohort of common variable immune deficiency patients over 6 months. (23360162)
2013
5
Hypogammaglobulinemia factitia- Munchausen syndrome masquerading as common variable immune deficiency. (24341706)
2013
6
Interferon signature in the blood in inflammatory common variable immune deficiency. (24069364)
2013
7
New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. (23859429)
2013
8
Orbital follicular hyperplasia in common variable immune deficiency syndrome. (23446300)
2013
9
Morbidity and mortality in common variable immune deficiency over 4 decades. (22180439)
2012
10
The many faces of the clinical picture of common variable immune deficiency. (23026770)
2012
11
Common variable immune deficiency and treatment with intravenous immunoglobulin during pregnancy. (22626605)
2012
12
Perspectives on common variable immune deficiency. (22236429)
2011
13
"A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? (21970952)
2011
14
Undetected common variable immune deficiency in a young adult of Pakistani descent. (22830176)
2011
15
How I treat common variable immune deficiency. (20332369)
2010
16
The association of common variable immune deficiency with idiopathic inflammatory myopathies. (20851031)
2010
17
Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. (19807277)
2009
18
Role of B cells in common variable immune deficiency. (20477641)
2009
19
Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency. (19191828)
2009
20
Common variable immune deficiency (CVID) presenting as an autoimmune disease: role of memory B cells. (18295735)
2008
21
Low level IGF-1 and common variable immune deficiency: an unusual combination. (18931397)
2008
22
CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency. (17192819)
2007
23
Large cell lymphoma presenting as a flare of colitis in a patient with common variable immune deficiency. (17268834)
2007
24
Recurrent multi-organism keratoconjunctivitis manifesting as a first presentation of common variable immune deficiency (CVID). (17972226)
2007
25
Common variable immune deficiency: reviews, continued puzzles, and a new registry. (17917013)
2007
26
Common variable immune deficiency and lung transplantation. (17454905)
2007
27
TLR9 activation is defective in common variable immune deficiency. (16424230)
2006
28
Inflammatory and autoimmune complications of common variable immune deficiency. (16431351)
2006
29
Common variable immune deficiency and autoimmunity. (16920573)
2006
30
Association of secondary amyloidosis with common variable immune deficiency and tuberculosis. (16385663)
2005
31
Intravenous immunoglobulin replacement prevents severe and lower respiratory tract infections, but not upper respiratory tract and non-respiratory infections in common variable immune deficiency. (15679727)
2005
32
The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency. (15899336)
2005
33
Deficient IL-12 and dendritic cell function in common variable immune deficiency. (15885637)
2005
34
High-Throughput GoMiner, an 'industrial-strength' integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID). (15998470)
2005
35
Recurrent meningitis in association with common variable immune deficiency. (15591667)
2004
36
Lamotrigine-induced common variable immune deficiency. (15007150)
2004
37
Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. (12324637)
2002
38
Long-term interferon alpha maintenance therapy for chronic hepatitis C infection in a patient with common variable immune deficiency. (10478889)
1999
39
Effect of IVIG on the hair regrowth in a common variable immune deficiency patient with alopecia universalis. (10403010)
1999
40
Long-term maintenance of immunity in patients with common variable immune deficiency by plasma transfusion. (9646858)
1998
41
In vitro chromosomal radiosensitivity in common variable immune deficiency. (9473380)
1998
42
Nodular lymphoid hyperplasia of the small bowel complicated by jejunal lymphoma in a patient with common variable immune deficiency syndrome. (7976886)
1994
43
Common Variable Immune Deficiency Overview (20301476)
1993
44
Genetic and immunologic analysis of a family containing five patients with common-variable immune deficiency or selective IgA deficiency. (1363103)
1992
45
Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families. (3943665)
1986
46
Cancer and autoimmune disease in families with common variable immune deficiency. (3957001)
1986
47
Common variable immune deficiency syndrome associated with lupus anticoagulant. (3919983)
1985
48
Partial in vivo response to corticosteroid treatment in common variable immune deficiency. (2859250)
1985
49
Evidence of persistent IgA/IgG circulating immune complexes associated with activation of the complement system in serum of a patient with common variable immune deficiency: anaphylactic reactions to intravenous gammaglobulin. (6203331)
1984
50
Phagocyte dysfunction in common variable immune deficiency. (895009)
1977

Genetic Variations for Common Variable Immune Deficiency

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Expression for genes affiliated with Common Variable Immune Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Common Variable Immune Deficiency

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Pathways for genes affiliated with Common Variable Immune Deficiency

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29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 52R&D Systems, 51QIAGEN, 55SinoBiological, 53Reactome
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Pathways related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TLR9
2
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
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9.6TNF, TNFRSF13B
39.3TLR9, TNF
4
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9.3TLR9, TNF
5
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9.3TNFRSF13B, TNFRSF13C, CR2
69.2TNF, CR2, CD19
7
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9.2TNF, CR2, CD19
8
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9.1TNF, CTLA4
99.0CD19, TNFRSF13B, TNFRSF13C, ICOS
10
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9.0TNFRSF13C, TNF, TLR9
11
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8.7TNFRSF13C, TNFRSF13B, TNF, NCF4
12
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8.6TNF, TNFRSF13B, TNFRSF13C, TLR9
13
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8.6TNFRSF13B, TNF, TNFRSF13C, TLR9
14
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8.6TLR9, TNFRSF13C, TNFRSF13B, TNF
15
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8.5CD19, TNF, TLR9, CR2
16
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8.0CTLA4, ICOS, TNF, TNFRSF13B, TNFRSF13C
17
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7.9CD19, CR2, CTLA4, ICOS, TNF
18
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7.8ICOS, TLR9, CD19, NCF4, CTLA4

Compounds for genes affiliated with Common Variable Immune Deficiency

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44Novoseek, 28IUPHAR, 11DrugBank
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Compounds related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1rantes4410.1TNF
2baff2810.0TNFRSF13C, TNFRSF13B
3okt3449.6CR2, TNF
4bcma449.5TNF, TNFRSF13B, TNFRSF13C
5hydroxychloroquine44 1110.5TNF, TLR9
6blys449.5TNFRSF13C, TNFRSF13B, TNF
7abatacept44 1110.4CTLA4, TNF
8lipoteichoic acid449.3TLR9, TNF
9serine449.2CTLA4, TNF
10polyinosinic-polycytidylic acid449.2TNF, TLR9
11il 10449.1CTLA4, TNF
12poly(i-c)449.0TNF, TLR9
13indoleamine448.8CTLA4, TNF, TLR9
14phosphatidylinositol448.5CTLA4, CR2, NCF4, CD19

GO Terms for genes affiliated with Common Variable Immune Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:0058878.0ICOS, TNFRSF13B, TNF, CTLA4, CD19
2external side of plasma membraneGO:0098976.9ICOS, TNFRSF13C, TNFRSF13B, TNF, CTLA4, CR2

Biological processes related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1B cell homeostasisGO:00178210.0TNFRSF13B, TNFRSF13C
2positive regulation of interferon-gamma biosynthetic processGO:0450789.8TNFRSF13C, TLR9
3negative regulation of B cell proliferationGO:0308899.5TNFRSF13B, CTLA4
4positive regulation of chemokine productionGO:0327229.5TLR9, TNF
5negative regulation of interleukin-6 productionGO:0327159.4TLR9, TNF
6positive regulation of NF-kappaB import into nucleusGO:0423469.4TNF, TLR9
7positive regulation of JUN kinase activityGO:0435079.3TLR9, TNF
8positive regulation of JNK cascadeGO:0463309.3TNF, TLR9
9B cell receptor signaling pathwayGO:0508539.2CD19, CTLA4
10T cell costimulationGO:0312959.2ICOS, TNFRSF13C, CTLA4
11positive regulation of interleukin-6 productionGO:0327559.0TLR9, TNF
12immune responseGO:0069558.5ICOS, CTLA4, CR2, NCF4

Products for genes affiliated with Common Variable Immune Deficiency

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Sources for Common Variable Immune Deficiency

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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