Immunodeficiency, common variable, 7

Preferred Label : Immunodeficiency, common variable, 7;

Symbol : CVID7;

CISMeF acronym : CVID7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component receptor 2 gene (CR2, 120650.0002);

Laboratory abnormalities : Decreased IgA; Decreased switched memory B cells; Low-normal IgM; Deceased IgG; Proper antibody response to protein vaccinations;

Prefixed ID : #614699;

Details

Origin ID

614699;

UMLS CUI

C3542922;

Automatic exact mappings (from CISMeF team)
- CR2 wt Allele [NCIt concept]
- Common variable immunodeficiency due to an intrinsic B cell defect [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Complement component receptor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic (near) absent circulating IgG4 [HPO term]
- Chronic diarrhea [HPO term]
- Chronic partially decreased circulating IgG1 [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating total IgG [HPO term]
- Decreased specific pneumococcal antibody level [HPO term]
- Fever [HPO term]
- Myalgia [HPO term]
- Pharyngalgia [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Reduced isohemagglutinin level [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Common variable immunodeficiency [ORDO Disease]
- Common variable immunodeficiency due to an intrinsic B cell defect [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Common variable immunodeficiency [ORDO Disease]

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