Clinical and host genetic characteristics of mendelian susceptibility to mycobacterial diseases in Japan

Takayuki Hoshina, Hidetoshi Takada, Yuka Sasaki-Mihara, Koichi Kusuhara, Koichi Ohshima, Satoshi Okada, Masao Kobayashi, Osamu Ohara, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)


Purpose: The aim of this study is to investigate clinical characteristics and genetic backgrounds of Mendelian susceptibility to mycobacterial diseases (MSMD) in Japan. Methods: Forty-six patients diagnosed as having MSMD were enrolled in this study. All patients were analyzed for the IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, and NEMO gene mutations known to be associated with MSMD. Results: Six patients and one patient were diagnosed as having partial interferon-γ receptor 1 deficiency and nuclear factor-κB-essential modulator deficiency, respectively. Six of the seven patients had recurrent disseminated mycobacterial infections, while 93% of the patients without these mutations had only one episode of infection. Conclusions: The patients with a genetic mutation were more susceptible to developing recurrent disseminated mycobacterial infections. Recurrent disseminated mycobacterial infections occurred in a small number of patients even without these mutations, suggesting the presence of as yet undetermined genetic factors underlying the development and progression of this disease.

Original languageEnglish
Pages (from-to)309-314
Number of pages6
JournalJournal of Clinical Immunology
Issue number3
Publication statusPublished - Jun 2011

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology


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