title: Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).
abstract: Severe combined immunodeficiency (SCID), a rare type of genetic associated immune disorder, is poorly characterized in mainland China. We retrospectively reviewed 44 patients with SCID who received treatment from 2004 to 2011 in Shanghai, China, and herein summarize their clinical manifestations and immunological and preliminary genetic features. The male-to-female ratio was 10:1. Twenty five patients presented with X-SCID symptoms. Only one patient was diagnosed before the onset of symptoms due to positive family history. The mean time of delay in the diagnosis of X-SCID was 2.69 months (range, 0.5-8.67). Thirty-seven of the 44 patients died by the end of 2011 with the mean age of death being 7.87 months (range, 1.33-31). Six patients received hematopoietic stem cell transplantation (HSCT); only one of them survived, who was transplanted twice. The time between onset and death was shorter in the HSCT-treated group compared with the untreated group (2.87 ± 1.28 and 3.34 ± 0.59 months, respectively), probably due to active infections during transplantation. Bacillus Calmette-Guérin (BCG) complications occurred in 14 of the 34 patients who received BCG vaccination. Transfusion-induced graft-versus-host disease occurred in 5 patients. Total 20 mutations in interleukin-2 receptor subunit gamma (IL2RG) were identified in 22 patients, including 11 novel mutations. Most patients were misdiagnosed before referred to our SCID Center. Therefore, establishing more diagnostic centers dedicated to the care of PID and accessible by primary immunodeficiency patients will facilitate early, correct diagnosis and better care of SCID in China.
authors.affiliation: Department of Pediatrics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 20092, China.
authors.forename: Chun-Mei
authors.initials: CM
authors.lastname: Yao
authors.forename: Xiao-Hua
authors.initials: XH
authors.lastname: Han
authors.forename: Yi-Dan
authors.initials: YD
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Jin
authors.forename: Rui-Ming
authors.initials: RM
authors.lastname: Cao
authors.forename: Xi
authors.initials: X
authors.lastname: Wang
authors.forename: Quan-Hua
authors.initials: QH
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Zhao
authors.forename: Tong-Xin
authors.initials: TX
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001500:BCG Vaccine / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood / Q000276:immunology; D007223:Infant; D007231:Infant, Newborn; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D016131:Lymphocyte Subsets / Q000276:immunology / Q000378:metabolism; D008297:Male; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D055815:Young Adult
chemical_list: D001500:BCG Vaccine; C507941:IL2RG protein, human; D007074:Immunoglobulin G; D053631:Interleukin Receptor Common gamma Subunit