immunodeficiency 117

Term ID

DOID:0061083

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. https://pubmed.ncbi.nlm.nih.gov/36736301/

References

• MIM:620668

Ontology

Human Disease   ( DOID:0061083 )