CVID14
MCID: IMM189
MIFTS: 18

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 57 72 29 6
Cvid14 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 617765
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074

Summaries for Immunodeficiency, Common Variable, 14

UniProtKB/Swiss-Prot : 72 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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. 57 6
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 Position
1 IRF2BP2 NM_182972.2(IRF2BP2):c.1652G>A (p.Ser551Asn) SNV Pathogenic 446216 rs1553319504 GRCh37: 1:234742995-234742995
GRCh38: 1:234607249-234607249
2 IRF2BP2 NM_182972.2(IRF2BP2):c.1180A>C (p.Thr394Pro) SNV Uncertain significance 811030 rs138385624 GRCh37: 1:234743467-234743467
GRCh38: 1:234607721-234607721
3 IRF2BP2 NM_182972.3(IRF2BP2):c.451C>A (p.Pro151Thr) SNV Uncertain significance 1030390 GRCh37: 1:234744790-234744790
GRCh38: 1:234609044-234609044
4 IRF2BP2 NM_182972.3(IRF2BP2):c.535C>G (p.Arg179Gly) SNV Uncertain significance 1030391 GRCh37: 1:234744706-234744706
GRCh38: 1:234608960-234608960
5 IRF2BP2 NM_182972.3(IRF2BP2):c.344A>G (p.Glu115Gly) SNV Uncertain significance 1031779 GRCh37: 1:234744897-234744897
GRCh38: 1:234609151-234609151
6 IRF2BP2 NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) SNV Likely benign 994137 GRCh37: 1:234744313-234744313
GRCh38: 1:234608567-234608567
7 IRF2BP2 NM_182972.2(IRF2BP2):c.75C>T (p.Pro25=) SNV Benign 782235 rs76362154 GRCh37: 1:234745166-234745166
GRCh38: 1:234609420-234609420
8 IRF2BP2 NM_182972.2(IRF2BP2):c.352C>T (p.Pro118Ser) SNV Benign 770864 rs148187914 GRCh37: 1:234744889-234744889
GRCh38: 1:234609143-234609143
9 IRF2BP2 NM_182972.2(IRF2BP2):c.294_295insAGC (p.Leu99_Gly100insSer) Insertion Benign 811019 rs1571958828 GRCh37: 1:234744946-234744947
GRCh38: 1:234609200-234609201

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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