Immunodeficiency, common variable, 2

Preferred Label : Immunodeficiency, common variable, 2;

Symbol : CVID2;

CISMeF acronym : CVID2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Antibody deficiency due to taci defect; Hypogammaglobulinemia due to taci deficiency;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 13B gene (TNFRSF13B, 604907.0001);

Neoplasia : Lymphoma;

Laboratory abnormalities : Reduced IgM levels; Anti-IgA antibodies commonly present; Markedly reduced IgA levels; Markedly reduced IgG levels;

Prefixed ID : #240500;

Détails

Origin ID

240500;

UMLS CUI

C3150354;

Automatic exact mappings (from CISMeF team)
- Common variable immunodeficiency due to TNFR deficiency [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
- TNFRSF13B wt Allele [NCIt concept]
Broader ORDO disease(s)
- Common variable immunodeficiency [ORDO Disease]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 13b [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Combined immunodeficiency [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Diarrhea [HPO term]
- Follicular hyperplasia [HPO term]
- Hepatomegaly [HPO term]
- Impaired T cell function [HPO term]
- Isolated cases [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoma [HPO term]
- Markedly reduced IgG levels [HPO term]
- Meningitis [HPO term]
- Neoplasm [HPO term]
- Partial absence of specific antibody response to unconjugated pneumococcus vaccine [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Splenomegaly [HPO term]
- Variable degree of T cell dysfunction [HPO term]
Not associated HPO term(s)
- Abnormal T cell count [HPO term]
- Decreased circulating total IgM [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]

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

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