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Definition

A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection.

Acronym

IMD69

Synonyms

IFNG deficiency, autosomal recessive
Immunodeficiency 69, mycobacteriosis, autosomal recessive

 
Disclaimer

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