Journal of Clinical Immunology

, Volume 31, Issue 3, pp 309–314 | Cite as

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



The aim of this study is to investigate clinical characteristics and genetic backgrounds of Mendelian susceptibility to mycobacterial diseases (MSMD) in Japan.


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.


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.


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.


Disseminated mycobacterial infection IFN-γR1 deficiency NEMO deficiency flow cytometric analysis 


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Takayuki Hoshina
    • 1
  • Hidetoshi Takada
    • 1
  • Yuka Sasaki-Mihara
    • 1
  • Koichi Kusuhara
    • 1
    • 4
  • Koichi Ohshima
    • 2
    • 3
  • Satoshi Okada
    • 5
  • Masao Kobayashi
    • 5
  • Osamu Ohara
    • 2
    • 3
  • Toshiro Hara
    • 1
  1. 1.Department of Pediatrics, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan
  2. 2.Laboratory for ImmunogenomicsRIKEN Research Center for Allergy and ImmunologyYokohamaJapan
  3. 3.Department of Human Genome TechnologyKazusa DNA Research InstituteChibaJapan
  4. 4.Department of PediatricsUniversity of Occupational and Environmental HealthFukoukaJapan
  5. 5.Department of PediatricsHiroshima University Graduate School of Biomedical SciencesHiroshimaJapan

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