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Metadata
ID DOID:0111944
Name immunodeficiency 31B
Definition A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2.
https://pubmed.ncbi.nlm.nih.gov/12590259/, https://pubmed.ncbi.nlm.nih.gov/19084105/
Xrefs

OMIM:613796

ORDO:391311

Synonyms

autosomal recessive immunodeficiency 31B, mycobacterial and viral infections [EXACT]

autosomal recessive STAT1 deficiency [EXACT]

IMD31B [EXACT]

predisposition to severe viral infection due to STAT1 deficiency [EXACT]

susceptibility to viral and mycobacterial infections due to STAT1 deficiency [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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