CVID14
MCID: IMM189
MIFTS: 17

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 56 73 29 6
Cvid14 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
immunodeficiency, common variable, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 617765
OMIM Phenotypic Series 56 PS607594
MeSH 43 D017074

Summaries for Immunodeficiency, Common Variable, 14

UniProtKB/Swiss-Prot : 73 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 psoriasiform dermatitis

More information from OMIM: 617765 PS607594

Related Diseases for Immunodeficiency, Common Variable, 14

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 14

Human phenotypes related to Immunodeficiency, Common Variable, 14:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 psoriasiform dermatitis 31 HP:0003765
3 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Immunodeficiency, Common Variable, 14:

# Genetic test Affiliating Genes
1 Immunodeficiency, Common Variable, 14 29 IRF2BP2

Anatomical Context for Immunodeficiency, Common Variable, 14

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

40
B Cells

Publications for Immunodeficiency, Common Variable, 14

Articles related to Immunodeficiency, Common Variable, 14:

# Title Authors PMID Year
1
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. 6 56
27016798 2016

Variations for Immunodeficiency, Common Variable, 14

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF2BP2 NM_182972.2(IRF2BP2):c.1652G>A (p.Ser551Asn)SNV Pathogenic 446216 rs1553319504 1:234742995-234742995 1:234607249-234607249
2 IRF2BP2 NM_182972.2(IRF2BP2):c.1180A>C (p.Thr394Pro)SNV Uncertain significance 811030 1:234743467-234743467 1:234607721-234607721
3 IRF2BP2 NM_182972.2(IRF2BP2):c.294_295insAGC (p.Leu99_Gly100insSer)insertion Benign 811019 1:234744946-234744947 1:234609200-234609201
4 IRF2BP2 NM_182972.2(IRF2BP2):c.352C>T (p.Pro118Ser)SNV Benign 770864 1:234744889-234744889 1:234609143-234609143

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

73
# Symbol AA change Variation ID SNP ID
1 IRF2BP2 p.Ser551Asn VAR_080578 rs155331950

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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