A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations
Rattachement africain : ir. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
PURPOSE: Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by eczema, microthrombocytopenia, and recurrent infections. This study evaluates the frequency of clinical manifestations and overall outcomes in WAS patients, comparing those who received hematopoietic stem cell transplantation (HSCT) with those who did not. METHODS: Thirty-eight boys with a definite diagnosis of WAS were retrospectively evaluated in the Immunology, Asthma, and Allergy Research Institute registry in Tehran from 2006 to 2023. RESULTS: The median ages at symptom onset, diagnosis, and delay to diagnosis were 3.5, 7.5, and 4.5 months, respectively. The clinical presentations include allergies in 38 (100%), infection in 37 (97.4%), hemorrhage in 36 (94.7%), autoimmunity in 14 (36.8%), and malignancies or myelodysplasia syndrome in 3 (7.9%) patients. Although microthrombocytopenia is a hallmark of WAS, 34.4% of our cases had normal platelet size. The WAS gene analysis in 36 of 38 patients identified six novel mutations. Sixteen patients underwent HSCT. Disease-free survival was reported in 10 (62.5%) of them, whereas 6 (37.5%) of them were deceased. The mortality rate in non-transplant patients was 15/22 (68.2%). CONCLUSION: Most WAS patients experienced atopy, recurrent infections, and bleeding. Moreover, autoimmunity and malignancies have increased relative to the general population. Moreover, the mortality rate is high, especially among those who did not receive HSCT. Keeping in mind that thrombocytopenia alongside eczema and/or infection in a male infant can be the presentation of this fatal disease. Early diagnosis and treatment could be lifesaving and prevent severe morbidities.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations
- Date Crossref
- 20/02/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Children's Medical Center pays non établi dans la noticeÉtablissement de santé
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Hakim Children Hospital pays non établi dans la noticeÉtablissement de santé
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Tehran University of Medical Sciences Department of Allergy and Clinical Immunology pays non établi dans la noticeUniversité ou école supérieure
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Stem Cell Technology Research Center pays non établi dans la noticeStructure de recherche
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Shahid Sadoughi University of Medical Sciences and Health Services Children Growth Disorder Research Center pays non établi dans la noticeUniversité ou école supérieure
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National Institute of Genetic Engineering and Biotechnology pays non établi dans la noticeStructure de recherche
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Shahid Beheshti University of Medical Sciences Pediatric Congenital Hematologic Disorders Research Center pays non établi dans la noticeUniversité ou école supérieure
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Shariati Hospital pays non établi dans la noticeÉtablissement de santé
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Iran University of Medical Sciences Department of Allergy and Clinical Immunology pays non établi dans la noticeUniversité ou école supérieure
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Rasool Akram Hospital pays non établi dans la noticeÉtablissement de santé
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Bahrami Hospital pays non établi dans la noticeÉtablissement de santé
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Mashhad University of Medical Sciences Allergy Research Center pays non établi dans la noticeUniversité ou école supérieure
Children's Medical Center, Hakim Children Hospital et Department of Allergy and Clinical Immunology — Tehran University of Medical Sciences, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.