Term Name: | immunodeficiency 117 |
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Synonyms: | |
Definition: | A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. |
Ontology: | Human Disease [DOID:0061083] ( DOID:0061083 ) |