Selene Pury, Milagros López Orozco, Gabriela Pichichero, Laura V Sasia, Daniela Morell, María S Álvarez, Ana L Basquiera, María E Mas, Karina Salvucci
{"title":"Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report.","authors":"Selene Pury, Milagros López Orozco, Gabriela Pichichero, Laura V Sasia, Daniela Morell, María S Álvarez, Ana L Basquiera, María E Mas, Karina Salvucci","doi":"10.5546/aap.2023-10061.eng","DOIUrl":null,"url":null,"abstract":"<p><p>Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy). At day +30, the peripheral blood-nucleated cell chimerism was 100% and the WAS protein had a normal expression. Currently, at month 32 post-transplant, the patient has hematological and immune reconstitution and complete donor chimerism without evidence of GvHD. HSCT with PT-Cy was a feasible and safe option for this patient with WAS, in which an HLA matched donor was not available.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos argentinos de pediatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5546/aap.2023-10061.eng","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/27 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy). At day +30, the peripheral blood-nucleated cell chimerism was 100% and the WAS protein had a normal expression. Currently, at month 32 post-transplant, the patient has hematological and immune reconstitution and complete donor chimerism without evidence of GvHD. HSCT with PT-Cy was a feasible and safe option for this patient with WAS, in which an HLA matched donor was not available.
期刊介绍:
Archivos Argentinos de Pediatría is the official publication of the Sociedad Argentina de Pediatría (SAP) and has been published without interruption since 1930. Its publication is bimonthly.
Archivos Argentinos de Pediatría publishes articles related to perinatal, child and adolescent health and other relevant disciplines for the medical profession.