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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617765

OMIM Phenotypic Series ⁵⁷ PS607594

MeSH ⁴⁴ 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 : 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

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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®:

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)

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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. ⁵⁷ ⁶	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	PubMed IDs
1	IRF2BP2	Interferon Regulatory Factor 2 Binding Protein 2	Protein Coding	1367.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ 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	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

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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

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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