Immunodeficiency 32a

Preferred Label : Immunodeficiency 32a;

Symbol : IMD32A;

CISMeF acronym : IMD32A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 32a, mycobacteriosis, autosomal dominant; Irf8 deficiency, autosomal dominant; Cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant;

Description : Autosomal dominant IRF8 deficiency causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon regulatory factor 8 gene (IRF8, 601565.0002);

Prefixed ID : #614893;

Details

Origin ID

614893;

UMLS CUI

C3808589;

Automatic exact mappings (from CISMeF team)
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency [ORDO Disease]
- immunodeficiency 32A [DO Concept]
DO Cross reference
- immunodeficiency 32A [DO Concept]
Genes related to phenotype
- Interferon regulatory factor 8 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Immunodeficiency [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent infections [HPO term]
ORDO concept(s)
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 32A [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients