Immunodeficiency 32b

Preferred Label : Immunodeficiency 32b;

Symbol : IMD32B;

CISMeF acronym : IMD32B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epstein-barr virus, susceptibility to chronic infection by; Immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive; Irf8 deficiency, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon regulatory factor 8 gene (IRF8, 601565.0001);

Prefixed ID : #226990;

Details

Origin ID

226990;

UMLS CUI

C4016741;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 32B [DO Concept]
Currated CISMeF NLP mapping
- Chronic Epstein-Barr virus infection syndrome [ORDO Disease]
- Chronic Epstein-Barr virus infection syndrome (disorder) [SNOMED CT concept]
- Chronic active Epstein-Barr virus infection [HPO term]
DO Cross reference
- immunodeficiency 32B [DO Concept]
Genes related to phenotype
- Interferon regulatory factor 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Fever [HPO term]
- Immunodeficiency [HPO term]
- Pneumonia [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Sinusitis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Chronic Epstein-Barr virus infection syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic Epstein-Barr virus infection syndrome [ORDO Disease]
- immunodeficiency 32B [DO Concept]

Keyword's position in hierarchy(ies) :

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