Doctor of Medical Sciences, Associate Professor, Head of the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Assistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Assistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. Pavlov
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by a triad of symptoms: immunodeficiency, thrombocytopenia, and eczema. It arises from a mutation in the gene encoding the WAS protein (WASp). The disease can present with varying degrees of severity, ranging from classic WAS, which features a severe phenotype, to milder forms, such as X-linked thrombocytopenia and X-linked neutropenia. WAS primarily affects boys, although it can occur in isolated cases in girls, and it does not show any significant ethnic or geographic predisposition. This article discusses a clinical case of WAS identified in two siblings from the same family. In this study, we analyzed primary medical documentation and conducted a literature review. The syndrome is relevant for healthcare providers across various specialties, as it requires a comprehensive approach to diagnosis and ongoing monitoring. Medical genetic diagnostics play a crucial role in the diagnosis, while treatment may involve hematopoietic stem cell transplantation from a compatible donor. Additionally, this condition can be detected prenatally through appropriate medical consultation for the family.
