CVID14
MCID: IMM189
MIFTS: 13

Immunodeficiency, Common Variable, 14 (CVID14)

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 58 76 6
Cvid14 58 76

Characteristics:

OMIM:

58
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 58 617765
MeSH 45 D017074
SNOMED-CT via HPO 70 119250001 234532001

Summaries for Immunodeficiency, Common Variable, 14

UniProtKB/Swiss-Prot : 76 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, and related phenotypes are immunodeficiency and decreased antibody level in blood

Description from OMIM: 617765

Related Diseases for Immunodeficiency, Common Variable, 14

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 14

Human phenotypes related to Immunodeficiency, Common Variable, 14:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 decreased antibody level in blood 33 HP:0004313

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
psoriasis

Respiratory:
sinopulmonary infections, recurrent

Endocrine Features:
type 1 diabetes mellitus (1 patient)

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

Abdomen Gastrointestinal:
inflammatory colitis (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:

42
B Cells

Publications for Immunodeficiency, Common Variable, 14

Variations for Immunodeficiency, Common Variable, 14

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 14:

76
# Symbol AA change Variation ID SNP ID
1 IRF2BP2 p.Ser551Asn VAR_080578

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 rs1553319504 GRCh37 Chromosome 1, 234742995: 234742995
2 IRF2BP2 NM_182972.2(IRF2BP2): c.1652G> A (p.Ser551Asn) single nucleotide variant Pathogenic rs1553319504 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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