Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report
Wiskott–Aldrich syndrome (WAS) is a condition characterized by a low platelet count, eczema, and a weakened immune system. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option. Haploidentical HSCT with posttransplant cyclophosphamide (PTCy) is an emerging approach for...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1495666/full |
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| author | Le Nguyen Ngoc Quynh Binh Nguyen Thanh Lien Luong Thi Thuy Nguyen Thi Dieu Duong Dang Anh Pamela P. Lee Tung Cao Viet Dien Tran Minh |
| author_facet | Le Nguyen Ngoc Quynh Binh Nguyen Thanh Lien Luong Thi Thuy Nguyen Thi Dieu Duong Dang Anh Pamela P. Lee Tung Cao Viet Dien Tran Minh |
| author_sort | Le Nguyen Ngoc Quynh |
| collection | DOAJ |
| description | Wiskott–Aldrich syndrome (WAS) is a condition characterized by a low platelet count, eczema, and a weakened immune system. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option. Haploidentical HSCT with posttransplant cyclophosphamide (PTCy) is an emerging approach for children with noncancerous conditions. This case describes a WAS patient who was early diagnosed and successfully treated with haploidentical HSCT. A 3-month-old boy presented with widespread eczema, a low platelet count, and severe infections in infancy. The diagnosis of WAS was quickly confirmed by genetic test. He received immunoglobulin replacement therapy and antimicrobial prophylaxis and underwent HSCT at 4 years 3 months of age. After failed unrelated cord blood HSCT, second rescue haploidentical HSCT had been performed using the patient’s mother as the donor, with stem cells collected from peripheral blood. The conditioning regimen included anti-thymocyte globulin, melphalan, and fludarabine. The stem cell dose was 2.63 × 106 CD34+ cells/kg. GVHD prevention included PTCy, mycophenolat mofetil, and tacrolimus. The patient had no significant complications after the transplant. Neutrophil and platelet engraftment occurred promptly. At 32 months post-HSCT, the patient had complete hematological and immune reconstitution, with full donor chimerism and no GVHD. In conclusion, the PTCy approach to haploidentical HSCT was a safe and effective treatment for this WAS patient. |
| format | Article |
| id | doaj-art-d68dce48e2934313aa60cd0a2c174f91 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-d68dce48e2934313aa60cd0a2c174f912025-02-04T06:31:40ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-02-011610.3389/fimmu.2025.14956661495666Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case reportLe Nguyen Ngoc Quynh0Binh Nguyen Thanh1Lien Luong Thi2Thuy Nguyen Thi Dieu3Duong Dang Anh4Pamela P. Lee5Tung Cao Viet6Dien Tran Minh7Stem Cells Center, Vietnam National Children’s Hospital, Hanoi, VietnamPathophysiology and Immunology Department, Hanoi Medical University, Hanoi, VietnamPediatric Department, Hanoi Medical University Hospital, Hanoi, VietnamPediatric Department, Hanoi Medical University, Hanoi, VietnamSurgical Intensive Care Unit, Vietnam National Children’s Hospital, Hanoi, VietnamDepartment of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, ChinaChildren Heart Center, National Children’s Hospital, Hanoi, VietnamSurgical Intensive Care Unit, Vietnam National Children’s Hospital, Hanoi, VietnamWiskott–Aldrich syndrome (WAS) is a condition characterized by a low platelet count, eczema, and a weakened immune system. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option. Haploidentical HSCT with posttransplant cyclophosphamide (PTCy) is an emerging approach for children with noncancerous conditions. This case describes a WAS patient who was early diagnosed and successfully treated with haploidentical HSCT. A 3-month-old boy presented with widespread eczema, a low platelet count, and severe infections in infancy. The diagnosis of WAS was quickly confirmed by genetic test. He received immunoglobulin replacement therapy and antimicrobial prophylaxis and underwent HSCT at 4 years 3 months of age. After failed unrelated cord blood HSCT, second rescue haploidentical HSCT had been performed using the patient’s mother as the donor, with stem cells collected from peripheral blood. The conditioning regimen included anti-thymocyte globulin, melphalan, and fludarabine. The stem cell dose was 2.63 × 106 CD34+ cells/kg. GVHD prevention included PTCy, mycophenolat mofetil, and tacrolimus. The patient had no significant complications after the transplant. Neutrophil and platelet engraftment occurred promptly. At 32 months post-HSCT, the patient had complete hematological and immune reconstitution, with full donor chimerism and no GVHD. In conclusion, the PTCy approach to haploidentical HSCT was a safe and effective treatment for this WAS patient.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1495666/fullWiskott–Aldrich syndromethrombocytopeniainborn error immunityhematopoietic stem cell transplantationposttransplant cyclophosphamide |
| spellingShingle | Le Nguyen Ngoc Quynh Binh Nguyen Thanh Lien Luong Thi Thuy Nguyen Thi Dieu Duong Dang Anh Pamela P. Lee Tung Cao Viet Dien Tran Minh Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report Frontiers in Immunology Wiskott–Aldrich syndrome thrombocytopenia inborn error immunity hematopoietic stem cell transplantation posttransplant cyclophosphamide |
| title | Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report |
| title_full | Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report |
| title_fullStr | Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report |
| title_full_unstemmed | Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report |
| title_short | Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report |
| title_sort | haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with wiskott aldrich syndrome a case report |
| topic | Wiskott–Aldrich syndrome thrombocytopenia inborn error immunity hematopoietic stem cell transplantation posttransplant cyclophosphamide |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1495666/full |
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