title: Nationwide survey of patients with primary immunodeficiency diseases in Japan.
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.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. ischii@pediatr.med.kyushu-u.ac.jp
authors.forename: Masataka
authors.initials: M
authors.lastname: Ishimura
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Takehiko
authors.initials: T
authors.lastname: Doi
authors.forename: Kousuke
authors.initials: K
authors.lastname: Imai
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
authors.forename: Shigeru
authors.initials: S
authors.lastname: Tsuchiya
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000906:Antibodies / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D015551:Autoimmunity / Q000235:genetics; D002648:Child; D005260:Female; D006306:Health Surveys; D006801:Humans; D007070:Immunoglobulin A / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D007564:Japan / Q000453:epidemiology; D008297:Male; D010586:Phagocytes / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D015995:Prevalence; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D011795:Surveys and Questionnaires
chemical_list: D000906:Antibodies; D007070:Immunoglobulin A; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase