Journal of Clinical Immunology

, Volume 31, Issue 6, pp 968–976 | Cite as

Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan

  • Masataka IshimuraEmail author
  • Hidetoshi Takada
  • Takehiko Doi
  • Kousuke Imai
  • Yoji Sasahara
  • Hirokazu Kanegane
  • Ryuta Nishikomori
  • Tomohiro Morio
  • Toshio Heike
  • Masao Kobayashi
  • Tadashi Ariga
  • Shigeru Tsuchiya
  • Shigeaki Nonoyama
  • Toshio Miyawaki
  • Toshiro Hara


To determine the prevalence and clinical characteristics of patients with in Japan, we conducted a nationwide survey of primary immunodeficiency disease (PID) patients for the first time in 30 years. Questionnaires were sent to 1,224 pediatric departments and 1,670 internal medicine departments of Japanese hospitals. A total of 1,240 patients were registered. The estimated number of patients with PID was 2,900 with a prevalence of 2.3 per 100,000 people and homogenous regional distribution in Japan. The male-to-female ratio was 2.3:1 with a median age of 12.8 years. Adolescents or adults constituted 42.8% of the patients. A number of 25 (2.7%) and 78 (8.5%) patients developed malignant disorders and immune-related diseases, respectively, as complications of primary immunodeficiency disease. Close monitoring and appropriate management for these complications in addition to prevention of infectious diseases is important for improving the quality of life of PID patients.


Primary immunodeficiency disease epidemiology nationwide survey Japan 



Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy


Bruton’s tyrosine kinase


Chronic granulomatous disease


Combined T and B cell immunodeficiency


Common variable immunodeficiency disease


Familial Mediterranean fever


Immune dysregulation polyendocrinopathy enteropathy X-linked


Nuclear factor kappa B essential modulator


Primary immunodeficiency disease


Selective IgA deficiency


Systemic lupus erythematosus


Tumor necrosis factor receptor-associated periodic syndrome


Wiskott–Aldrich syndrome


Warts hypogammaglobulinemia, infections, and myelokathexis



The authors would like to thank the support of the Japanese Research Group on Primary Immunodeficiency Diseases, which is supported by Japan’s Ministry of Health, Labour and Welfare.

Conflict of Interest

There is no actual or potential conflict of interest in relation to the study.


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Masataka Ishimura
    • 1
    Email author
  • Hidetoshi Takada
    • 1
  • Takehiko Doi
    • 1
  • Kousuke Imai
    • 2
  • Yoji Sasahara
    • 3
  • Hirokazu Kanegane
    • 4
  • Ryuta Nishikomori
    • 5
  • Tomohiro Morio
    • 6
  • Toshio Heike
    • 5
  • Masao Kobayashi
    • 7
  • Tadashi Ariga
    • 8
  • Shigeru Tsuchiya
    • 3
  • Shigeaki Nonoyama
    • 2
  • Toshio Miyawaki
    • 4
  • Toshiro Hara
    • 1
  1. 1.Department of Pediatrics, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan
  2. 2.Department of PediatricsNational Defense Medical CollegeTokorozawaJapan
  3. 3.Department of PediatricsTohoku University School of MedicineSendaiJapan
  4. 4.Department of Pediatrics, Graduate School of Medicine and Pharmaceutical ScienceUniversity of ToyamaToyamaJapan
  5. 5.Department of PediatricsKyoto University Graduate School of MedicineKyotoJapan
  6. 6.Department of PediatricsTokyo Medical and Dental University Graduate SchoolBunkyo-kuJapan
  7. 7.Department of PediatricsHiroshima University Graduate School of Biomedical SciencesHiroshimaJapan
  8. 8.Department of Pediatrics, Graduate School of MedicineHokkaido UniversitySapporoJapan

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