Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome
- Author:
Mohd Farid Baharin
;
Sabeera Begum Kader Ibrahim
;
Yap Song Hong
;
Aina Mariana Abdul Manaf
;
Adiratna Mat Ripen
;
Jasbir Singh Dhaliwal
- Publication Type:Case Reports
- Keywords:
Primary immunodeficiency;
Wiskott-Aldrich Syndrome;
eczema;
thrombocytopenia;
recurrent infections
- From:The Malaysian Journal of Pathology
2015;37(2):153-158
- CountryMalaysia
- Language:English
-
Abstract:
The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized
by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the
Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented
with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of
WASP mutation in Malaysia from two unrelated families. One had a novel missense mutation in
exon 1 while the other had a nonsense mutation in exon 2. Both patients succumbed to diseaserelated
complications. A differential diagnosis of WAS should be considered in any male child
who present with early onset thrombocytopenia, especially when this is associated with eczema
and recurrent infections.
- Full text:P020150923626371014092.pdf
