Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: Identification of dominant partial interferon-γ receptor 1 deficiency as a predominant type

Yuka Sasaki, Akihiko Nomura, Koichi Kusuhara, Hidetoshi Takada, Saifuddin Ahmed, Kaoru Obinata, Keisuke Hamada, Yuri Okimoto, Toshiro Hara

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Abstract

Interferon (IFN)-γ-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-γ-mediated immunity. Heterozygous small deletions with frameshift (818de14 and 811de14) that are consistent with the diagnosis of partial dominant IFN-γ receptor 1 (IFN-γR1) deficiency were detected in 3 unrelated patients. Expression of IFN-γR1 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-γR1 deficiency was the most common in Japanese patients who showed predisposition to curable BCG osteomyelitis.

Original languageEnglish
Pages (from-to)706-709
Number of pages4
JournalJournal of Infectious Diseases
Volume185
Issue number5
DOIs
Publication statusPublished - Mar 2002

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Interferon Receptors
Osteomyelitis
Interferons
Japan
Immunity
Interleukin-12
Mycobacterium
Fathers
Monocytes
Mutation
Infection
Genes

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Infectious Diseases

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Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan : Identification of dominant partial interferon-γ receptor 1 deficiency as a predominant type. / Sasaki, Yuka; Nomura, Akihiko; Kusuhara, Koichi; Takada, Hidetoshi; Ahmed, Saifuddin; Obinata, Kaoru; Hamada, Keisuke; Okimoto, Yuri; Hara, Toshiro.

In: Journal of Infectious Diseases, Vol. 185, No. 5, 03.2002, p. 706-709.

Research output: Contribution to journalArticle

Sasaki, Yuka ; Nomura, Akihiko ; Kusuhara, Koichi ; Takada, Hidetoshi ; Ahmed, Saifuddin ; Obinata, Kaoru ; Hamada, Keisuke ; Okimoto, Yuri ; Hara, Toshiro. / Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan : Identification of dominant partial interferon-γ receptor 1 deficiency as a predominant type. In: Journal of Infectious Diseases. 2002 ; Vol. 185, No. 5. pp. 706-709.
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