Neurological manifestations in Wiskott–Aldrich syndrome: a systematic review

IntroductionNeurological involvement in Wiskott–Aldrich syndrome (WAS) – an inborn error of immunity caused by mutations in the WAS gene – is primarily documented through isolated case reports, limiting systematic synthesis and clear characterization of clinical patterns. We conducted a systematic review to characterize central and peripheral nervous system involvement in patients with confirmed WAS.MethodsA systematic search was conducted in PubMed, Embase, Scopus, and Web of Science following the PRISMA 2020 guidelines.

Studies reporting neurological manifestations in WAS were eligible. Extracted variables included neurological diagnosis, age at WAS diagnosis, age at neurological onset, hematopoietic stem cell transplantation (HSCT) status, viral associations, and outcomes.

Methodological quality was assessed using the Newcastle–Ottawa Scale and Joanna Briggs Institute tools. Analyses were descriptive at the patient level.ResultsTwenty-six studies describing 32 patients were included.

Most patients were pediatric (78.1%), with a median age at WAS diagnosis of 0.4 years; neurological manifestations occurred a median of 3.0 years later. Manifestations were classified as brain hemorrhagic (8/32), immune-mediated (6/32), infectious (6/32), or neoplastic (12/32).