| Term Name: | immunodeficiency 117 |
|---|---|
| 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 ) |