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Metadata
ID DOID:0112006
Name immunodeficiency 69
Definition A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15.
https://pubmed.ncbi.nlm.nih.gov/32163377/
Xrefs

OMIM:618963

Synonyms

IMD69 [EXACT]

Parent Relationships

is_a T cell and NK cell immunodeficiency

is_a autosomal recessive disease

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