Immunodeficiency, common variable, 3

Preferred Label : Immunodeficiency, common variable, 3;

Symbol : CVID3;

CISMeF acronym : CVID3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Antibody deficiency due to cd19 defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD19 antigen gene (CD191, 107265.0001);

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

Prefixed ID : #613493;

Détails

Origin ID

613493;

UMLS CUI

C3150738;

Automatic exact mappings (from CISMeF team)
- CD19 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]
- antibody deficiency due to defect in CD19 [MeSH concept]
- antibody deficiency due to defect in CD19 [MeSH Supplementary Concept]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Cd19 antigen [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic decreased circulating total IgG [HPO term]
- Combined immunodeficiency [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced isohemagglutinin level [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]
UMLS correspondences (same concept)
- antibody deficiency due to defect in CD19 [MeSH Supplementary Concept]
- antibody deficiency due to defect in CD19 [MeSH concept]
Validated automatic mappings to NTBT
- Common variable immunodeficiency [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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