A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report.
| Autor: | Ochfeld E; Division of Pediatric Allergy and Immunology, Ann & Robert H. Lurie Children's Hospital of Chicago.; Department of Pediatrics, Division of Allergy and Immunology., Grayer D; Department of Pediatrics and Medicine, Rush University Medical Center., Sharma R; Division of Pediatric Hematology and Oncology, Medical College of Wisconsin.; Versiti Blood Center of Wisconsin, Milwaukee, WI., Schneiderman J; Division of Pediatric Hematology, Oncology, Neuro-oncology, and Stem Cell Transplantation, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine., Giordano L; Division of Pediatric Hematology/Oncology, Rush University Children's Hospital, Chicago, IL., Makhija M; Division of Pediatric Allergy and Immunology, Ann & Robert H. Lurie Children's Hospital of Chicago.; Department of Pediatrics, Division of Allergy and Immunology. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Mar 01; Vol. 43 (2), pp. e234-e236. |
| DOI: | 10.1097/MPH.0000000000001790 |
| Abstrakt: | Background: Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by immunodeficiency, thrombocytopenia, and atopic dermatitis. Observations: This infant presented at birth with petechiae and bruising, with severe neonatal thrombocytopenia. Genetic testing for WAS revealed a variant of unknown significance hemizygous missense mutation in the WAS gene. This variant has not previously been reported. On the basis of the patient's clinical course including bleeding, infection, abnormal immune evaluation, and dermatologic sequelae, he was diagnosed with WAS and underwent allogeneic hematopoietic stem cell transplantation. Conclusions: We report a novel mutation in the WAS gene that causes a phenotypic presentation of Wiskott-Aldrich Syndrome. Competing Interests: The authors declare no conflict of interest. (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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