immunodeficiency 69

Term ID

DOID:0112006

Synonyms

• IMD69

Definition

A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. https://pubmed.ncbi.nlm.nih.gov/32163377/

References

• OMIM:618963

Ontology

Human Disease   ( DOID:0112006 )