MCID: IMM189
MIFTS: 12

Immunodeficiency, Common Variable, 14

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 14

MalaCards integrated aliases for Immunodeficiency, Common Variable, 14:

Name: Immunodeficiency, Common Variable, 14 57 75 6
Cvid14 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
can be managed with immunoglobulin (ig) therapy
one family has been reported (last curated november 2017)


Classifications:



External Ids:

OMIM 57 617765
MeSH 44 D017074

Summaries for Immunodeficiency, Common Variable, 14

UniProtKB/Swiss-Prot : 75 Immunodeficiency, common variable, 14: A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant.

MalaCards based summary : Immunodeficiency, Common Variable, 14, is also known as cvid14. An important gene associated with Immunodeficiency, Common Variable, 14 is IRF2BP2 (Interferon Regulatory Factor 2 Binding Protein 2). Affiliated tissues include b cells.

Description from OMIM: 617765

Related Diseases for Immunodeficiency, Common Variable, 14

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 14

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
sinopulmonary infections, recurrent

Skin Nails Hair Skin:
psoriasis

Immunology:
primary immunodeficiency
hypogammaglobulinemia
impaired antibody response to vaccination
decreased number of switched memory b cells
impaired b cell maturation

Abdomen Gastrointestinal:
inflammatory colitis (1 patient)

Endocrine Features:
type 1 diabetes mellitus (1 patient)


Clinical features from OMIM:

617765

Drugs & Therapeutics for Immunodeficiency, Common Variable, 14

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 14

Genetic Tests for Immunodeficiency, Common Variable, 14

Anatomical Context for Immunodeficiency, Common Variable, 14

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 14:

41
B Cells

Publications for Immunodeficiency, Common Variable, 14

Variations for Immunodeficiency, Common Variable, 14

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF2BP2 NM_182972.2(IRF2BP2): c.1652G> A (p.Ser551Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 234742995: 234742995
2 IRF2BP2 NM_182972.2(IRF2BP2): c.1652G> A (p.Ser551Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 234607249: 234607249

Expression for Immunodeficiency, Common Variable, 14

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 14.

Pathways for Immunodeficiency, Common Variable, 14

GO Terms for Immunodeficiency, Common Variable, 14

Sources for Immunodeficiency, Common Variable, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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