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Metadata
ID DOID:0111945
Name immunodeficiency 31A
Definition A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2.
https://pubmed.ncbi.nlm.nih.gov/11452125/, https://pubmed.ncbi.nlm.nih.gov/19084105/
Xrefs

OMIM:614892

ORDO:319595

Synonyms

autosomal dominant immunodeficiency 31A, mycobacteriosis [EXACT]

IMD31A [EXACT]

Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency [EXACT]

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [EXACT]

MSMD due to partial signal transducer and activator of transcription 1 deficiency [EXACT]

MSMD due to partial STAT1 deficiency [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal dominant disease

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