Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type.
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| Abstract |
Interferon (IFN)-gamma-mediated immunity plays an important role in host defense against intracellular pathogens, especially mycobacteria. Six Japanese children with bacille Calmette-Guérin (BCG) osteomyelitis were evaluated (1 disseminated, 3 multiple, and 2 solitary types) for mutations of genes involved in interleukin-12-dependent, IFN-gamma-mediated immunity. Heterozygous small deletions with frameshift (818del4 and 811del4) that are consistent with the diagnosis of partial dominant IFN-gamma receptor 1 (IFN-gammaR1) deficiency were detected in 3 unrelated patients. Expression of IFN-gammaR1 on monocytes was significantly increased in all 3 patients. Screening of family members with recurrent and disseminated mycobacterial infections found the identical deletion in 1 of the fathers. Antimycobacterial treatment was effective in these patients and resulted in good clinical outcome. This study demonstrated that partial dominant IFN-gammaR1 deficiency was the most common in Japanese patients who showed predisposition to curable BCG osteomyelitis.
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| Authors | Yuka Sasaki, Akihiko Nomura, Koichi Kusuhara, Hidetoshi Takada, Saifuddin Ahmed, Kaoru Obinata, Keisuke Hamada, Yuri Okimoto, Toshiro Hara |
| Journal | The Journal of infectious diseases (J Infect Dis) Vol. 185 Issue 5 Pg. 706-9 (Mar 01 2002) ISSN: 0022-1899 [Print] United States |
| PMID | 11865431 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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