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.

Abstract Atopic eczema (AE) is a complex, chronic and recurrent inflammatory pruritic skin condition that impacts the quality of life and exerts an economic toll on patients and their families. One of the factors contributing to AE is the immune dysregulation of the Janus kinase-signal transducers and activators of transcription (JAK-STAT) inflammatory pathway. This has prompted the conduct of various large clinical trial programs to evaluate the efficacy and safety of Janus kinase inhibitors (JAK-i) for AE. The overall and significant benefit of these drugs from clinical studies resulted in regulatory approvals for JAK-i to treat moderate-to-severe atopic eczema. The objective of this position paper was to evaluate the safety, efficacy and role of upadacitinib, baricitinib and abrocitinib in managing AE and update the current recommended treatment algorithm within the 2018 Malaysian Clinical Practice Guidelines for the Management of Atopic Eczema. The Persatuan Dermatologi Malaysia recommends that these JAK-i can be considered as an option for systemic therapy in severe AE.
Dermatitis, Atopic--therapy ; Janus Kinase Inhibitors