Immunodeficiency, common variable, 6

Preferred Label : Immunodeficiency, common variable, 6;

Symbol : CVID6;

CISMeF acronym : CVID6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Antibody deficiency due to cd81 defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD81 antigen gene (CD81, 186845.0001);

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

Prefixed ID : #613496;

Details

Origin ID

613496;

UMLS CUI

C3150741;

Automatic exact mappings (from CISMeF team)
- CD81 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
- Cd81 antigen [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic decreased circulating total IgG [HPO term]
- Complete or near-complete absence of specific antibody response to tetanus vaccine [HPO term]
- Decreased specific pneumococcal antibody level [HPO term]
- Enlarged kidney [HPO term]
- Glomerulonephritis [HPO term]
- Hepatomegaly [HPO term]
- Hydronephrosis [HPO term]
- Macroscopic hematuria [HPO term]
- Mesangial Immune complex deposition [HPO term]
- Nephrotic range proteinuria [HPO term]
- Purpura [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Stage 5 chronic kidney disease [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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