TWO
CHINESE BOYS WITH WISKOTT-ALDRICH SYNDROME: PHENOTYPIC AND GENOTYPIC
ANALYSES
Leung TF, Chik KW, Li
CK, Liu VCT, Shing MMK, Lee V, Yuen PMP
Division of
Haematology and Oncology, Department of Paediatrics, The Chinese University
of Hong Kong, Hong Kong SAR, China
Objective:
Wiskott-Aldrich syndrome (WAS) is a rare, X-linked recessive primary
immunodeficiency disease that is caused by mutations in the gene encoding
WAS protein (WASp). We described two Chinese WAS patients and characterise
their genetic mutations in the WASp gene.
Patients: A 7-year-old boy presented with thrombocytopaenia and generalised
eczematous rash since 6 months of age. He suffered from buttock abscess,
herpes zoster and recurrent gingivostomatitis in recent three years. The other
case is a 15-month-old boy with refractory atopic dermatitis, cervical
lymphadenopathy and thrombocytopaenia since he was 2 months old. Lymph node
biopsy showed lymphoproliferative changes. This patient did not have
frequent or serious infection in the past. The family history in both
patients was unremarkable. Immunological investigations in both cases
showed abnormalities typical of WAS. Direct DNA sequencing showed a C®T change at position 134 in exon 1 of WASp
gene in the first patient and his mother, whereas polymerase chain reaction
revealed a 204-bp deletion involving exons 1 and 2 of WASp gene in the
second case and his mother.
Conclusion: We describe two Chinese boys with classical WAS, due to a novel
204-bp deletion in exons 1 and 2 and a reported substitution C134T.