Novel Mutation in the Interferon-γ-Receptor Gene and Susceptibility to Mycobacterial Infections

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Abstract

In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-γ-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.

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