Immunodeficiency 31b

Preferred Label : Immunodeficiency 31b;

Symbol : IMD31B;

CISMeF acronym : IMD31B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stat1 deficiency, autosomal recessive; Immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 1 gene (STAT1, 600555.0002);

Prefixed ID : #613796;

Details

Origin ID

613796;

UMLS CUI

C3151088;

Automatic exact mappings (from CISMeF team)
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ORDO Disease]
- STAT1 wt Allele [NCIt concept]
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency [ORDO Disease]
- immunodeficiency 31B [DO Concept]
DO Cross reference
- immunodeficiency 31B [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Herpes simplex encephalitis [HPO term]
- Recurrent mycobacterial infections [HPO term]
- Recurrent viral infections [HPO term]
ORDO concept(s)
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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