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.
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