title: Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.
abstract: BACKGROUND
  Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed.
  
  
  OBJECTIVE
  The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT).
  
  
  METHODS
  Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing.
  
  
  RESULTS
  All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant.
  
  
  CONCLUSIONS
  In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, China.
authors.forename: Pamela P W
authors.initials: PP
authors.lastname: Lee
authors.forename: Tong-Xin
authors.initials: TX
authors.lastname: Chen
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Jiang
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Koon-Wing
authors.initials: KW
authors.lastname: Chan
authors.forename: Tze-Leung
authors.initials: TL
authors.lastname: Lee
authors.forename: Marco H K
authors.initials: MH
authors.lastname: Ho
authors.forename: Shao-Han
authors.initials: SH
authors.lastname: Nong
authors.forename: Yin
authors.initials: Y
authors.lastname: Yang
authors.forename: Yong-Jun
authors.initials: YJ
authors.lastname: Fang
authors.forename: Qiang
authors.initials: Q
authors.lastname: Li
authors.forename: Xiao-Chun
authors.initials: XC
authors.lastname: Wang
authors.forename: Xi-Qiang
authors.initials: XQ
authors.lastname: Yang
authors.forename: Yu-Lung
authors.initials: YL
authors.lastname: Lau
mesh_terms: D002648:Child; D002681:China; D005091:Exons / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000276:immunology* / Q000601:surgery*
chemical_list: D007136:Immunoglobulins