Success of Hematopoietic Stem Cell Transplantation for Wiskott–aldrich Syndrome

Wiskott–Aldrich Syndrome (WAS) is a primary immunodeficiency (PID), characterized by varying severity of typical symptoms: thrombocytopenia, infections, immune dysregulation and cancer predisposition. Therefore any lymphoproliferative complications in WAS patients require lymph node biopsy. However, the interpretation of the histological picture is often complicated and requires the knowledge of the lymph node pathomorphology in patients with immunodeficiency. This article describes a rare combination of late diagnosis of WAS complicated by lymphadenopathy, which clinically and morphologically resembles Rosai–Dorfman disease (RDD). Parents gave their consent to use information about the child, including the fotos, in the article.

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Case Report: Familial Wiskott-Aldrich Syndrome

Belykh,

Glotova,

Deeva

et al. 2024

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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. Keywords: Children, immunodeficiency, Wiskott-Aldrich syndrome, thrombocytopenia, hematopoietic stem cell transplantation, clinical case.

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Success of Hematopoietic Stem Cell Transplantation for Wiskott–aldrich Syndrome

Cited by 3 publications

References 0 publications

Fludarabine/rituximab/treosulfan

Fludarabine/rituximab/treosulfan

Rosay–Dorfman – like lymphadenopathy in a patient with Wiskott–Aldrich syndrome: diagnostic difficulties

Case Report: Familial Wiskott-Aldrich Syndrome

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