Immunodeficiency, common variable, 4

Preferred Label : Immunodeficiency, common variable, 4;

Symbol : CVID4;

CISMeF acronym : CVID4;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 13C gene (TNFRSF13C, 606269.0001);

Laboratory abnormalities : Decreased serum IgM; Decreased serum IgG; Normal serum and mucosal IgA;

Prefixed ID : #613494;

Details

Origin ID

613494;

UMLS CUI

C3150739;

Automatic exact mappings (from CISMeF team)
- Common variable immunodeficiency due to TNFR deficiency [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
- TNFRSF13C wt Allele [NCIt concept]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 13c [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Combined immunodeficiency [HPO term]
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
Not associated HPO term(s)
- Abnormal T cell count [HPO term]
ORDO concept(s)
- Common variable immunodeficiency [ORDO Disease]
- Common variable immunodeficiency due to TNFR deficiency [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients