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...
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| Format: | Article |
| Language: | English |
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Avicenna Tajik State Medical University
2024-12-01
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| Series: | Паёми Сино |
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| Online Access: | https://doi.org/10.25005/2074-0581-2024-26-4-700-709 |
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| author | Belykh Natalia Anatolievna Glotova Inna Aleksandrovna Deeva Yuliya Vitalievna Piznyur Inna Vladimirovna |
| author_facet | Belykh Natalia Anatolievna Glotova Inna Aleksandrovna Deeva Yuliya Vitalievna Piznyur Inna Vladimirovna |
| author_sort | Belykh Natalia Anatolievna |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0f346c2d2fd040ac94f7acfa765451ce |
| institution | OA Journals |
| issn | 2074-0581 2959-6327 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Avicenna Tajik State Medical University |
| record_format | Article |
| series | Паёми Сино |
| spelling | doaj-art-0f346c2d2fd040ac94f7acfa765451ce2025-08-20T02:36:31ZengAvicenna Tajik State Medical UniversityПаёми Сино2074-05812959-63272024-12-0126470070910.25005/2074-0581-2024-26-4-700-709CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROMEBelykh Natalia Anatolievna0https://orcid.org/0000-0002-5533-0205Glotova Inna Aleksandrovna1https://orcid.org/0000-0002-1502-4086Deeva Yuliya Vitalievna2https://orcid.org/0000-0003-0975-1137Piznyur Inna Vladimirovna3https://orcid.org/0000-0002-9267-439XDoctor 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. PavlovStudent, 6th year, Faculty of Pediatrics, Ryazan State Medical University named after Academician I.P. PavlovAssistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. PavlovAssistant at the Department of Faculty and Polyclinic Pediatrics with a Course in Pediatrics, Ryazan State Medical University named after Academician I.P. PavlovWiskott-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.https://doi.org/10.25005/2074-0581-2024-26-4-700-709childrenimmunodeficiencywiskott-aldrich syndromethrombocytopeniahematopoietic stem cell transplantationclinical case. |
| spellingShingle | Belykh Natalia Anatolievna Glotova Inna Aleksandrovna Deeva Yuliya Vitalievna Piznyur Inna Vladimirovna CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME Паёми Сино children immunodeficiency wiskott-aldrich syndrome thrombocytopenia hematopoietic stem cell transplantation clinical case. |
| title | CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME |
| title_full | CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME |
| title_fullStr | CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME |
| title_full_unstemmed | CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME |
| title_short | CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME |
| title_sort | case report familial wiskott aldrich syndrome |
| topic | children immunodeficiency wiskott-aldrich syndrome thrombocytopenia hematopoietic stem cell transplantation clinical case. |
| url | https://doi.org/10.25005/2074-0581-2024-26-4-700-709 |
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