Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.
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.
Lee
Pamela P W
PP
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chen
Tong-Xin
TX
Jiang
Li-Ping
LP
Chen
Jing
J
Chan
Koon-Wing
KW
Lee
Tze-Leung
TL
Ho
Marco H K
MH
Nong
Shao-Han
SH
Yang
Yin
Y
Fang
Yong-Jun
YJ
Li
Qiang
Q
Wang
Xiao-Chun
XC
Yang
Xi-Qiang
XQ
Lau
Yu-Lung
YL
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*
D007136:Immunoglobulins