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GTR Home > Conditions/Phenotypes > Immunodeficiency 69

Immunodeficiency 69

Synonyms
IFNG DEFICIENCY, AUTOSOMAL RECESSIVE; IMMUNODEFICIENCY 69, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE

Summary

Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by Kerner et al., 2020). IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; 209950). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IFG, IFI, IMD69, IFNG
    Summary: interferon gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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