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Metadata
ID DOID:0111955
Name immunodeficiency 27A
Definition A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
https://pubmed.ncbi.nlm.nih.gov/19084105/, https://pubmed.ncbi.nlm.nih.gov/8960473/, https://pubmed.ncbi.nlm.nih.gov/8960475/
Xrefs

MESH:C535530

OMIM:209950

ORDO:319569

Subsets

DO_rare_slim

Synonyms

autosomal recessive IFNGR1 deficiency [EXACT]

autosomal recessive immunodeficiency 27A, mycobacteriosis [EXACT]

autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [EXACT]

autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency [EXACT]

autosomal recessive MSMD due to partial IFNgammaR1 deficiency [EXACT]

autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency [EXACT]

IMD27A [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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