title: Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010.
abstract: Primary immunodeficiency diseases (PIDs) are a group of rare diseases with wide geographic and ethnic variations in incidence, prevalence, and distribution patterns. The aim of this study was to examine the distribution pattern and clinical spectrum of PIDs in Taiwan at a national referral institute. From 1985 to 2010, 215 patients from 183 families were diagnosed and grouped according to the updated classification of PIDs. Eighty-one (37.7%) patients had "other well-defined immunodeficiency syndromes", followed by "predominantly antibody deficiencies" (54 patients; 25.1%), "T- and B-cell immunodeficiencies" (34; 15.8%), "congenital defects of phagocytes" (25; 20.2%), "complement deficiencies" (15; 7.0%), and "disease in immune dysregulation" (5; 2.3%). The last category included two patients with Chediak-Higashi syndrome, and one each with familial hemophagocytosis, IPEX, and hypogammaglobulinemia and albinism. One female had cold-induced auto-inflammatory disease. There were no cases of "defects in innate immunity". Pseudomonas and Streptococcus pneumoniae were the two most identified microorganisms in septicemia (42.7%; 44/103 episodes). Stem cell transplantation was successful in 13 of 22 patients, while 34 patients (15.8%) died. Molecular defects were identified in 109 individuals (from 90 families). There were relatively fewer cases of "predominantly antibody deficiencies" due to there being only a few patients with adult-onset PIDs, implying certainty bias rather than ethnic variation. Awareness of under-diagnosis among physicians rather than pediatricians is vital for timely diagnosis and consequently adequate treatment.
authors.affiliation: Primary Immunodeficiency Care and Research-PICAR Institute, Chang Gung University College of Medicine and Chang Gung Memorial Hospital, Taoyuan, Taiwan. wen2707@hotmail.com
authors.forename: Wen-I
authors.initials: WI
authors.lastname: Lee
authors.forename: Jing-Long
authors.initials: JL
authors.lastname: Huang
authors.forename: Tang-Her
authors.initials: TH
authors.lastname: Jaing
authors.forename: Shyh-Dar
authors.initials: SD
authors.lastname: Shyur
authors.forename: Kunder D
authors.initials: KD
authors.lastname: Yang
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Bor-Luen
authors.initials: BL
authors.lastname: Chiang
authors.forename: Wen-Jue
authors.initials: WJ
authors.lastname: Soong
authors.forename: Shyh-Shin
authors.initials: SS
authors.lastname: Chiou
authors.forename: Chi-Chang
authors.initials: CC
authors.lastname: Shieh
authors.forename: Syh-Jae
authors.initials: SJ
authors.lastname: Lin
authors.forename: Kuo-Wei
authors.initials: KW
authors.lastname: Yeh
authors.forename: Li-Chen
authors.initials: LC
authors.lastname: Chen
authors.forename: Liang-Shiou
authors.initials: LS
authors.lastname: Ou
authors.forename: Tsung-Chieh
authors.initials: TC
authors.lastname: Yao
authors.forename: Tzou-Yien
authors.initials: TY
authors.lastname: Lin
authors.forename: Cheng-Hsun
authors.initials: CH
authors.lastname: Chiu
authors.forename: Yhu-Chering
authors.initials: YC
authors.lastname: Huang
authors.forename: Kang-Hsi
authors.initials: KH
authors.lastname: Wu
authors.forename: Ching-Yuang
authors.initials: CY
authors.lastname: Lin
authors.forename: Hsin-Hui
authors.initials: HH
authors.lastname: Yu
authors.forename: Yao-Hsu
authors.initials: YH
authors.lastname: Yang
authors.forename: Hong-Ren
authors.initials: HR
authors.lastname: Yu
authors.forename: Hsiu-Ju
authors.initials: HJ
authors.lastname: Yen
authors.forename: Meng-Ying
authors.initials: MY
authors.lastname: Hsieh
authors.forename: Ming-Ling
authors.initials: ML
authors.lastname: Kuo
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Yi-Chan
authors.initials: YC
authors.lastname: Tsai
authors.forename: Ho-Chang
authors.initials: HC
authors.lastname: Kuo
authors.forename: Yi-Ling
authors.initials: YL
authors.lastname: Lin
authors.forename: Ying-Fan
authors.initials: YF
authors.lastname: Shih
authors.forename: Kuei-Wen
authors.initials: KW
authors.lastname: Chang
mesh_terms: D017668:Age of Onset; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007109:Immunity / Q000235:genetics; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000235:genetics / Q000401:mortality / Q000503:physiopathology* / Q000628:therapy*; D015994:Incidence; D008297:Male; D015995:Prevalence; D011549:Pseudomonas / Q000276:immunology* / Q000472:pathogenicity; D012008:Recurrence; D018805:Sepsis; D033581:Stem Cell Transplantation; D013296:Streptococcus pneumoniae / Q000276:immunology* / Q000472:pathogenicity; D016019:Survival Analysis; D013624:Taiwan; D016896:Treatment Outcome
chemical_list: D016756:Immunoglobulins, Intravenous