X-linked agammaglobulinaemia (XLA) is caused by mutation of the BTK gene. Early immunological screening is important in children with recurrent infection to avoid delay in diagnosis and treatment. A 9-year-old boy with delayed XLA diagnosis presented with a history of recurrent sinopulmonary infection since the age of 1 year old. He had a severe Achromobacter xylosoxidans bacteraemia at the age of 8 years that was successfully treated with intravenous antibiotics. Further immunological screening and genetic testing confirmed the diagnosis of XLA and he was treated with intravenous immunoglobulin replacement therapy. This case provides a valuable information on the diagnosis, treatment and management of XLA, emphasising the importance of early immunological investigations to avoid diagnostic delay.

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.