CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME
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 cla...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Avicenna Tajik State Medical University
2024-12-01
|
| Series: | Паёми Сино |
| Subjects: | |
| Online Access: | https://doi.org/10.25005/2074-0581-2024-26-4-700-709 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| ISSN: | 2074-0581 2959-6327 |