immunodeficiency 69

Summary
Synonym
  • 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.
Super Class
T cell and NK cell immunodeficiency autosomal recessive disease
Disease Ontology
DOID:0112006
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3458 IFNG interferon gamma
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P01579 Interferon gamma

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025