Immunodeficiency, common variable, 12, with autoimmunity

Preferred Label : Immunodeficiency, common variable, 12, with autoimmunity;

Symbol : CVID12;

CISMeF acronym : CVID12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nfkb1 deficiency;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor kappa-B, subunit 1 gene (NFKB1, 164011.0001);

Prefixed ID : #616576;

Details

Origin ID

616576;

UMLS CUI

C4225277;

Genes related to phenotype
- Nuclear factor kappa-b, subunit 1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Atrophic gastritis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Combined immunodeficiency [HPO term]
- Decreased circulating antibody level [HPO term]
- Pyoderma gangrenosum [HPO term]
- Recurrent infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent skin infections [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Common variable immunodeficiency [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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