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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

MIM:620668

Parent Relationships

is_a T cell and NK cell immunodeficiency

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal recessive inheritance

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