Immunodeficiency, common variable, 14

Preferred Label : Immunodeficiency, common variable, 14;

Symbol : CVID14;

CISMeF acronym : CVID14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon regulatory factor 2-binding protein 2 gene (IRF2BP2, 615332.0001);

Prefixed ID : #617765;

Details

Origin ID

617765;

UMLS CUI

C4540380;

Genes related to phenotype
- Interferon regulatory factor 2-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Combined immunodeficiency [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Decreased specific antibody response to vaccination [HPO term]
- Defective B cell differentiation [HPO term]
- Psoriasiform dermatitis [HPO term]
- Recurrent sinusitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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