CVID
MCID: CMM004
MIFTS: 64

Common Variable Immunodeficiency (CVID) malady

Immune category

Summaries for Common Variable Immunodeficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 hepatitis c and common variable immune deficiency. 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 skin, liver and brain, 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:47 613493, 613494, 613495, 240500, 607594 613496 more

Aliases & Classifications for Common Variable Immunodeficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 31LifeMap Discovery™, 61UMLS, 22GTR, 40NCIt, 27ICD9CM, 47OMIM, 57SNOMED-CT, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

common variable immunodeficiency 8 43 31 61
common variable agammaglobulinemia 8 22
acquired hypogammaglobulinemia 8 61
cvid 8 43
common variable hypogamma-globulinemia 43
immunoglobulin deficiency, late-onset 43
hypogamma-globulinemia, acquired 43
sporadic hypogammaglobulinemia 8
acquired agammaglobulinemia 8


External Ids:

Disease Ontology8 DOID:12177
NCIt40 C26725
ICD9CM27 279.06
SNOMED-CT57 191010004, 23238000
MeSH35 D017074

Related Diseases for Common Variable Immunodeficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 285)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis c30.8TNFSF13B, CD40LG, CD28, IL4, IL2
2common variable immune deficiency30.7ICOS, TNFRSF13C, TNFRSF13B
3arthritis30.6IL2RB, IL4, CD86
4autoimmune hemolytic anemia30.6CD40LG, CD79A
5bronchiectasis30.6CD79A, MBL2
6agammaglobulinemia30.5IL2, IL4, CD79A, CD40LG, BTK, SH2D1A
7systemic lupus erythematosus30.5CD27, TNFSF13B
8celiac disease30.5CD79A
9asthma30.4MBL2, TNFSF13B, AICDA, SELL, IL4, CD28
10uveitis30.4IL4
11infectious mononucleosis30.4SH2D1A, CD40LG, CD79A, IL2RB
12primary agammaglobulinemia30.4TNFRSF13C, TNFRSF13B
13thrombocytopenia30.3AICDA, CD40LG, CD79A, IL2
14vasculitis30.1MBL2, TNFSF13B, SH2D1A, CD40LG, CD79A, SELL
15hepatitis b30.1MBL2, CD86, CD79A, IL2
16burkitt's lymphoma30.1TNFSF13B, SH2D1A, AICDA, CD40LG, CD27, IL4
17allergic rhinitis30.1MBL2, IL4
18pemphigus30.1CD79A
19deficiency anemia30.1IL2, CD79A
20immunoglobulin g deficiency30.1CD79A, CD40LG, MBL2
21wiskott-aldrich syndrome30.1SH2D1A, BTK, CD28
22allergic asthma30.1AICDA, CD86, IL4, IL2RB, SELL
23cystic fibrosis30.1MBL2
24ulcerative colitis30.1CD86, CD79A, CD28, IL4, SELL
25growth hormone deficiency30.1BTK
26aspergillosis30.1CD79A, MBL2
27acquired immunodeficiency syndrome30.0IL2
28tuberculosis30.0SELL, IL2, IL4, CD79A, CD86, MBL2
29immunodeficiency, common variable, 110.4
30autoimmune thrombocytopenic purpura10.4
31n syndrome10.4
32hepatitis a10.4
33strongyloidiasis10.3
34autoimmune lymphoproliferative syndrome10.3
35evans' syndrome10.3
36alopecia10.3
37amyloidosis10.3
38t cell deficiency10.3
39alopecia immunodeficiency10.3
40nodular regenerative hyperplasia10.3
41specific antibody deficiency10.3
42primary immunodeficiency disease10.3
43bronchiolitis10.2
44myelitis10.2
45hepatitis e10.2
46inclusion body myositis10.2
47aseptic meningitis10.2
48giardiasis10.2
49progressive multifocal leukoencephalopathy10.2
50autoimmune hepatitis10.2

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



Diseases related to common variable immunodeficiency

Clinical Features for Common Variable Immunodeficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613493,613494,613495,240500,607594,613496

Drugs & Therapeutics for Common Variable Immunodeficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Agammaglobulinemia22

Anatomical Context for Common Variable Immunodeficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Common Variable Immunodeficiency:

33
Skin, Liver, Brain, Lung, Bone marrow, Whole blood, Smooth muscle, Small intestine, Monocytes, T cells, B cells

Animal Models for Common Variable Immunodeficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Common Variable Immunodeficiency

Sources:
51PubMed
See all sources

Articles related to Common Variable Immunodeficiency:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency. (23731676)
2013
2
Granulomatosis-associated common variable immunodeficiency disorder: a case-control study versus sarcoidosis. (22903958)
2013
3
Could oral administration of immunoglobulin reduce diarrheal severity in common variable immunodeficiency? (23578779)
2013
4
Persistent papilloma and polyoma virus infection in common variable immunodeficiency with progressive multifocal leukoencephalopathy. (23352533)
2013
5
Common variable immunodeficiency presenting with persistent parvovirus B19 infection. (23129076)
2012
6
Aseptic meningitis following intravenous immunoglobulin therapy of common variable immunodeficiency. (23560026)
2012
7
Abnormal IL-7 signaling may lead to the loss of bone mineral density in common variable immunodeficiency. (22432884)
2012
8
Liver transplantation for severe hepatitis in patients with common variable immunodeficiency. (21831259)
2012
9
A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family. (22627058)
2012
10
Association of HLA-DRB1, DQA1 and DQB1 Alleles and Haplotypes with Common Variable Immunodeficiency in Iranian Patients. (23408509)
2012
11
Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency. (21905497)
2011
12
Intravenous immunoglobulin replacement therapy in the treatment of patients with common variable immunodeficiency disease: an open-label prospective study. (21473654)
2011
13
Diffuse normolipemic plane xanthoma in a child with common variable immunodeficiency. (21276061)
2011
14
Development of pulmonary abnormalities in patients with common variable immunodeficiency: associations with clinical and immunologic factors. (20568383)
2010
15
Common variable immunodeficiency in pediatric neurosarcoidosis (protean manifestations of pediatric neurosarcoidosis. Vol. 44[4]). (20130719)
2010
16
A case of explosive progression of hepatocellular carcinoma in a patient with common variable immunodeficiency (CVID). (20473587)
2010
17
Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. (20156508)
2010
18
Evaluation of immunoglobulin levels and infection rate in patients with common variable immunodeficiency after immunoglobulin replacement therapy. (20434118)
2010
19
Common variable immunodeficiency: a heterogeneous group needs further subclassification. (20477686)
2009
20
Common variable immunodeficiency with regulatory T-cell deficiency treated with rapamycin. (19230472)
2009
21
Growth hormone deficiency and antipituitary antibodies in a patient with common variable immunodeficiency. (19509479)
2009
22
Ulcerative colitis and common variable immunodeficiency: case report. (18668674)
2009
23
Enhanced levels of urokinase plasminogen activator and its soluble receptor in common variable immunodeficiency. (19232508)
2009
24
11q terminal deletion disorder and common variable immunodeficiency. (19788026)
2009
25
Effective treatment of common variable immunodeficiency associated diarrhea. (19388803)
2009
26
Increased serum levels of soluble CD30 in patients with common variable immunodeficiency and its clinical implications. (17912490)
2008
27
Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. (18647320)
2008
28
Association of common variable immunodeficiency with vitamin B6 deficiency. (17311052)
2008
29
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. (17392797)
2007
30
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). (17492055)
2007
31
Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency. (17697196)
2007
32
Autoimmune lymphoproliferative syndrome in a patient with common variable immunodeficiency: dichotomy of apoptosis. (17601274)
2007
33
Testing for HCV in common variable immunodeficiency. (17950661)
2007
34
Defective T-cell activation caused by impairment of the TNF receptor 2 costimulatory pathway in common variable immunodeficiency. (17825894)
2007
35
Age dependency and mutual relations in T and B lymphocyte abnormalities in common variable immunodeficiency patients. (16412063)
2006
36
Efficiency of rituximab in the treatment of autoimmune thrombocytopenic purpura associated with common variable immunodeficiency. (16823831)
2006
37
A rare intestinal manifestation in a patient with common variable immunodeficiency and strongyloidiasis. (16682801)
2006
38
Partial response to anti-CD20 monoclonal antibody treatment of severe immune thrombocytopenic purpura in a patient with common variable immunodeficiency. (16127007)
2005
39
Perilesional GM-CSF therapy of a chronic leg ulcer in a patient with common variable immunodeficiency. (16083806)
2005
40
Common variable immunodeficiency in three horses with presumptive bacterial meningitis. (16013546)
2005
41
Childhood autoimmune cytopenia, common variable immunodeficiency, and sarcoidosis. (15580223)
2004
42
Severe pneumococcal meningitis heralding a deep hypogammaglobulinaemia related to common variable immunodeficiency, at the age of 27 years. (15513403)
2004
43
Cytomegalovirus retinitis during immunotherapy for common variable immunodeficiency. (11972425)
2002
44
B cell co-receptors regulating T cell-dependent antibody production in common variable immunodeficiency: CD27 pathway defects identify subsets of severely immuno-compromised patients. (11431417)
2001
45
Common variable immunodeficiency (CVID) and inclusion body myositis (IBM). (10993295)
2000
46
Chronic hepatitis C, common variable immunodeficiency and autoimmune hemolytic anemia. Coincidence by chance or common etiology? (11100366)
2000
47
Peripheral T cell lymphoma in a patient with common variable immunodeficiency disease: case report and literature review. (10048433)
1999
48
Variation in immunoregulatory genes determines the clinical phenotype of common variable immunodeficiency. (11196660)
1999
49
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. (1645668)
1991
50
Clinical conference: Common variable immunodeficiency with pernicious anemia, asthma, and reactions to gamma globulin; treatment with plasma. (59746)
1976

Genetic Variations for Common Variable Immunodeficiency

Expression for genes affiliated with Common Variable Immunodeficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 56SinoBiological, 53R&D Systems, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 54Reactome, 38NCBI BioSystems Database
See all sources

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
Hide members
10.5TNFRSF13C, TNFSF13B, TNFRSF13B, BTK, CD40LG, CD27
3
Hide members
10.5ICOS, TNFRSF13C, TNFSF13B, TNFRSF13B, AICDA, CD86
4
Hide members
10.5TNFRSF13C, TNFSF13B, TNFRSF13B, BTK, CD27, CD28
5
Hide members
10.5BTK, TNFRSF13B, TNFSF13B, TNFRSF13C
6
Hide members
10.5TNFRSF13C, TNFSF13B, TNFRSF13B
7
Hide members
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
Hide members
10.5CD40LG, TNFRSF13B, TNFSF13B
12
Hide members
10.5ICOS, MBL2, BTK, CD86, CD40LG, CD79A
13
Hide members
10.5TNFRSF13C, TNFRSF13B, BTK, CD28, IL2RB
14
Hide members
10.5TNFRSF13C, TNFSF13B, BTK, IL4, IL2RB, IL2
15
Hide members
10.5ICOS, BTK, CD40LG, CD79A, CD28, IL4
16
Hide members
10.5IL2, IL4, CD79A, BTK, SH2D1A
1710.5ICOS, CD86, CD40LG, CD28, SELL
18
Hide members
10.5BTK, CD79A, IL4, IL2RB, IL2
19
Hide members
10.5ICOS, CD86, CD28, IL2RB, IL2
20
Hide members
10.5CD40LG, IL4, IL2
21
Immune response ICOS pathway in T-helper cell
Hide members
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
Hide members
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
Hide members
10.5IL4, IL2RB, IL2
31
Hide members
10.5IL2, CD28, CD86
3210.5IL2, IL2RB, CD28, CD86
33
Hide members
10.5CD86, CD28, IL4

Compounds for genes affiliated with Common Variable Immunodeficiency

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 2BitterDB
See all sources

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

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1blys4511.0TNFRSF13C, TNFSF13B, TNFRSF13B, CD40LG, CD79A
2bcma4510.9TNFRSF13C, TNFSF13B, TNFRSF13B, CD27
3ivig4510.9AICDA, BTK, CD40LG, CD79A, IL4, IL2RB
4neopterin4510.9MBL2, CD40LG, CD79A, IL4, IL2RB, IL2
5con a4510.9IL2, IL2RB, IL4, CD28, CD79A, MBL2
6histamine45 29 2412.9BTK, CD86, CD40LG, CD79A, IL4, IL2RB
7okt34510.9CD40LG, CD79A, IL4, IL2RB, IL2
8ionomycin4510.9BTK, CD40LG, CD28, IL4, IL2RB, IL2
9dexamethasone45 50 29 1113.9CD86, CD40LG, CD79A, SELL
10ctla4-ig4510.9IL2, IL2RB, CD28, CD86
11il-124510.9CD86, CD40LG, IL4, IL2
12tacrolimus45 50 1112.9CD86, CD79A, CD28, IL4, IL2RB, IL2
13cyclosporin a45 29 6012.9CD86, CD40LG, CD79A, CD28, IL4, IL2RB
14pge24510.9IL2
15biotin45 11 2412.9CD40LG, CD79A, IL4, IL2, SELL
16rantes4510.9MBL2, CD40LG, IL4, IL2RB, IL2, SELL
17mycophenolate mofetil45 50 1112.9CD40LG, CD79A, IL2RB, IL2
18prednisolone45 29 1112.9SELL, IL2, IL2RB, CD79A, MBL2
19cytidine45 11 2412.9CD79A, CD40LG, AICDA, ICOS
20rapamycin4510.9CD86, CD40LG, CD28, IL2RB, IL2, SELL
21thyroxine45 2411.9MBL2, CD40LG, CD79A, IL4, IL2RB
22herbimycin a45 6011.9CD40LG, CD28, IL4, IL2, SELL
23ribavirin45 50 1112.9MBL2, CD40LG, IL4, IL2
24lactose45 1111.9MBL2, CD40LG, IL2RB, SELL
25rituximab45 50 1112.9TNFSF13B, CD40LG, CD79A, IL2
26genistein45 29 60 2 11 2415.8BTK, CD40LG, CD28, IL2RB, IL2, SELL
27pentoxifylline45 1111.8SELL, IL2RB, IL4
28phosphatidylserine45 29 1112.8CD79A
29allergens4510.8IL4, CD79A, CD40LG, CD86
30daclizumab45 1111.8CD40LG, IL2RB, IL2
31tuberculin4510.8CD79A, CD40LG, MBL2
32aspirin45 50 29 2413.8CD40LG, CD79A, IL4, IL2RB, SELL
33praziquantel45 1111.8IL4, CD79A, CD40LG
34alemtuzumab45 1111.8CD40LG, IL2RB, IL2
35hemocyanin4510.8CD40LG, CD79A, IL4
36creatinine4510.8MBL2, TNFSF13B, CD40LG, CD79A, IL2RB, SELL
37vegf4510.8MBL2, CD79A, IL2RB, SELL
38azathioprine45 50 2 1113.8CD79A, IL4, IL2RB, IL2
39tyrosine4510.7MBL2, SH2D1A, BTK, CD86, CD28, IL4
40sulfolipid i4510.7CD40LG, CD79A
41tdac4510.7IL4, IL2
42r-il-24510.7IL2RB, IL2
43cycloheximide4510.7IL2RB, SELL
44polysaccharide4510.6SELL, IL2RB, CD79A, CD40LG, MBL2
45mannan4510.6MBL2, CD40LG, CD79A
46mycophenolic acid45 50 1112.6IL2, IL2RB, CD40LG
47baff2910.5TNFRSF13C, TNFRSF13B
48cysteine4510.5BTK, CD40LG, CD27, CD79A, CD28, IL4
49sandoglobulin4510.4CD40LG, CD79A
50fitc4510.2SELL, IL2RB, CD86

GO Terms for genes affiliated with Common Variable Immunodeficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
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  • Lysates
  • Antibodies

Sources for Common Variable Immunodeficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet