Immunodeficiency, common variable, 5

Preferred Label : Immunodeficiency, common variable, 5;

Symbol : CVID5;

CISMeF acronym : CVID5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Antibody deficiency due to cd20 defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the membrane-spanning 4 domains, subfamily A, member 1 gene (MS4A1, 112210.0001);

Laboratory abnormalities : Hypogammaglobulinemia; Low or normal serum IgM; Low serum IgG and IgA;

Prefixed ID : #613495;

Details

Origin ID

613495;

UMLS CUI

C3150740;

Automatic exact mappings (from CISMeF team)
- 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
- Membrane-spanning 4 domains, subfamily a, member 1 [OMIM gene]
HPO term(s)
- Antinuclear antibody positivity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic decreased circulating total IgG [HPO term]
- Combined immunodeficiency [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent respiratory infections [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
- Abnormal T cell count [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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