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Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan

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Abstract

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.

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Abbreviations

APECED:

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy

BTK:

Bruton’s tyrosine kinase

CGD:

Chronic granulomatous disease

CID:

Combined T and B cell immunodeficiency

CVID:

Common variable immunodeficiency disease

FMF:

Familial Mediterranean fever

IPEX:

Immune dysregulation polyendocrinopathy enteropathy X-linked

NEMO:

Nuclear factor kappa B essential modulator

PID:

Primary immunodeficiency disease

SIgAD:

Selective IgA deficiency

SLE:

Systemic lupus erythematosus

TRAPS:

Tumor necrosis factor receptor-associated periodic syndrome

WAS:

Wiskott–Aldrich syndrome

WHIM:

Warts hypogammaglobulinemia, infections, and myelokathexis

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Acknowledgments

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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Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan

    Masataka Ishimura, Hidetoshi Takada, Takehiko Doi & Toshiro Hara

  2. Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan

    Kousuke Imai & Shigeaki Nonoyama

  3. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

    Yoji Sasahara & Shigeru Tsuchiya

  4. Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan

    Hirokazu Kanegane & Toshio Miyawaki

  5. Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Ryuta Nishikomori & Toshio Heike

  6. Department of Pediatrics, Tokyo Medical and Dental University Graduate School, Bunkyo-ku, Tokyo, Japan

    Tomohiro Morio

  7. Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan

    Masao Kobayashi

  8. Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan

    Tadashi Ariga

Authors
  1. Masataka Ishimura
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  2. Hidetoshi Takada
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  3. Takehiko Doi
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  4. Kousuke Imai
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  5. Yoji Sasahara
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  6. Hirokazu Kanegane
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  7. Ryuta Nishikomori
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  8. Tomohiro Morio
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  9. Toshio Heike
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  10. Masao Kobayashi
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  11. Tadashi Ariga
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  12. Shigeru Tsuchiya
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  13. Shigeaki Nonoyama
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  14. Toshio Miyawaki
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  15. Toshiro Hara
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Correspondence to Masataka Ishimura.

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Ishimura, M., Takada, H., Doi, T. et al. Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan. J Clin Immunol 31, 968–976 (2011). https://doi.org/10.1007/s10875-011-9594-7

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  • DOI: https://doi.org/10.1007/s10875-011-9594-7

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