Metadata | |
---|---|
ID | DOID:0061083 |
Name | immunodeficiency 117 |
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. https://pubmed.ncbi.nlm.nih.gov/36736301/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |