Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan
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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.
KeywordsPrimary 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
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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