Kamini P. Sao,
- Assistant Professor Department of Child Health Nursing Kasturba Nursing College, Sevagram Maharashtra India
Abstract
Wiskott-Aldrich Syndrome (WAS) is an uncommon genetic disorder inherited through the X chromosome, marked by a combination of immune system deficiencies, eczema, and low platelet counts. This syndrome primarily affects males, leading to significant morbidity and mortality due to recurrent infections, bleeding complications, and autoimmune diseases. Mutations in the WAS gene disrupt the production of the Wiskott-Aldrich Syndrome protein (WASp), crucial for the functioning of immune cells and platelet formation. Diagnostic approaches include clinical evaluation, laboratory tests, and genetic analysis, with flow cytometry and molecular genetic testing playing pivotal roles. Current treatment strategies encompass hematopoietic stem cell transplantation (HSCT), gene therapy, and supportive care, aiming to improve immune function and manage symptoms. Recent developments in gene therapy show encouraging potential for achieving sustained remission over an extended period. Additionally, the role of supportive therapies, such as prophylactic antibiotics, immunoglobulin replacement, and careful management of eczema and bleeding, are critical in improving patient outcomes. Emerging research into targeted therapies and the development of better HSCT protocols continue to enhance the prognosis for WAS patients. This review provides a comprehensive overview of the clinical manifestations, diagnostic methodologies, and emerging treatment options for Wiskott-Aldrich Syndrome, emphasizing the importance of early diagnosis and intervention, and the potential for future therapeutic breakthroughs.
Keywords: Wiskott-Aldrich Syndrome, immunodeficiency, thrombocytopenia, WAS gene, hematopoietic stem cell transplantation, gene therapy, immunodeficiency disorders, pediatric immunology, genetic mutations
[This article belongs to Research & Reviews : A Journal of Immunology(rrjoi)]
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Research & Reviews : A Journal of Immunology
| Volume | 14 |
| Issue | 02 |
| Received | May 20, 2024 |
| Accepted | June 12, 2024 |
| Published | August 16, 2024 |