title: Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan.
abstract: One hundred and twenty-four patients (from 120 families) diagnosed as primary immunodeficiency diseases were enrolled from five tertiary medical centers. The distribution by an update eight categories showed 45 patients (13 females/32 males; 36.3%) with "predominant antibody deficiencies," 27 patients (6/21; 21.8%) with "T- and B-cell immunodeficiency," 25 patients (9/16; 20.2%) with "congenital defects of phagocyte," 25 patients (4/21; 20.2%) with "other well-defined immunodeficiency syndromes," one boy (0.8%) with "disease in immune deregulation" (Chediak-Higashi syndrome) and another with "complement 3 deficiency." None had "defects in innate immunity" or "auto inflammatory disorders." Pseudomonas and Salmonella spp. were the two most identified microorganisms in septicemia (39.7%; 27/68 episodes). Twenty-three patients (18.5%) had mortality. Stem cell transplantation succeeded in 7 of 12 patients. In addition to nine patients with DiGerge syndrome recognized by FISH, direct sequencing identified 12 unique mutations from 20 families, reflecting distinct Taiwan geography, although a selection bias may exist.
authors.affiliation: Department of Pediatric Allergy, Immunology, and Rheumatology, Chang Gung University and Children's Hospital, Taoyuan, Taiwan. wen2702@hotmail.com
authors.forename: Wen-I
authors.initials: WI
authors.lastname: Lee
authors.forename: Tang-Her
authors.initials: TH
authors.lastname: Jaing
authors.forename: Meng-Ying
authors.initials: MY
authors.lastname: Hsieh
authors.forename: Ming-Ling
authors.initials: ML
authors.lastname: Kuo
authors.forename: Syh-Jae
authors.initials: SJ
authors.lastname: Lin
authors.forename: Jing-Long
authors.initials: JL
authors.lastname: Huang
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006579:Heterozygote; D006801:Humans; D007113:Immunity, Innate; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D007223:Infant; D008297:Male; D009154:Mutation; D009894:Opportunistic Infections / Q000453:epidemiology / Q000209:etiology; D012189:Retrospective Studies; D033581:Stem Cell Transplantation; D013624:Taiwan