Metadata | |
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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 | |
Synonyms |
IMD69 [EXACT] |
Parent Relationships |