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Novel Mutation in the Interferon‐ γ ‐Receptor Gene and Susceptibility to Mycobacterial Infections
Author(s) -
Storgaard M.,
Varming K.,
Herlin T.,
Obel N.
Publication year - 2006
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1111/j.1365-3083.2006.01775.x
Subject(s) - osteomyelitis , daughter , mutation , interferon , gene , mycobacterium , cytotoxicity , biology , monocyte , medicine , immunology , microbiology and biotechnology , virology , genetics , bacteria , evolutionary biology , in vitro
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.