Immunodeficiency, Common Variable, 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617765

OMIM Phenotypic Series ⁵⁶ PS607594

MeSH ⁴³ D017074

MedGen ⁴¹ C4540380 CN615280

SNOMED-CT via HPO ⁶⁸ 119250001 234532001 263681008 more

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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

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Related Diseases for Immunodeficiency, Common Variable, 14

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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 14

Human phenotypes related to Immunodeficiency, Common Variable, 14:

³¹

#	Description	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

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 14

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

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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

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Anatomical Context for Immunodeficiency, Common Variable, 14

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

⁴⁰

B Cells

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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	Keller MD...Hakonarson H	27016798	2016

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Genes for Immunodeficiency, Common Variable, 14

Genes related to Immunodeficiency, Common Variable, 14 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IRF2BP2	Interferon Regulatory Factor 2 Binding Protein 2	Protein Coding	1367.86	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	27016798

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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

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Expression for Immunodeficiency, Common Variable, 14

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

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Pathways for Immunodeficiency, Common Variable, 14

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GO Terms for Immunodeficiency, Common Variable, 14

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Sources for Immunodeficiency, Common Variable, 14

¹ BioSystems

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⁴⁰ MalaCards

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⁴³ MeSH

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Immunodeficiency, Common Variable, 14 (CVID14)

Aliases & Classifications for Immunodeficiency, Common Variable, 14

MalaCards integrated aliases for Immunodeficiency, Common Variable, 14:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency, Common Variable, 14

Related Diseases for Immunodeficiency, Common Variable, 14

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 14

Human phenotypes related to Immunodeficiency, Common Variable, 14:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Immunodeficiency, Common Variable, 14

Genetic Tests for Immunodeficiency, Common Variable, 14

Genetic tests related to Immunodeficiency, Common Variable, 14:

Anatomical Context for Immunodeficiency, Common Variable, 14

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

Publications for Immunodeficiency, Common Variable, 14

Articles related to Immunodeficiency, Common Variable, 14:

Genes for Immunodeficiency, Common Variable, 14

Genes related to Immunodeficiency, Common Variable, 14 (1 elite genes):

Variations for Immunodeficiency, Common Variable, 14

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

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

Expression for Immunodeficiency, Common Variable, 14

Pathways for Immunodeficiency, Common Variable, 14

GO Terms for Immunodeficiency, Common Variable, 14

Sources for Immunodeficiency, Common Variable, 14