Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency
| Autor: | Maura Faraci, Patrizia Comoli, Laura Banov, Edoardo Lanino, Annarosa Soresina, Daniela Di Martino, Franco Locatelli, Giuseppe Morreale, Alessandro Plebani, Concetta Micalizzi |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Male
DNA Repair T-Lymphocytes medicine.medical_treatment Bone Marrow Cells Hematopoietic stem cell transplantation medicine.disease_cause Herpesviridae Congenital Abnormalities Immune system immune system diseases Lymphopenia hemic and lymphatic diseases Immunopathology medicine Humans Transplantation Homologous Gammaherpesvirinae Abnormalities Multiple Child B-Lymphocytes Transplantation biology business.industry Hematopoietic Stem Cell Transplantation Immunologic Deficiency Syndromes biology.organism_classification Epstein–Barr virus Treatment Outcome surgical procedures operative Immune System Pediatrics Perinatology and Child Health Immunology Stem cell business |
| Zdroj: | Pediatric Transplantation. 13:785-789 |
| ISSN: | 1399-3046 1397-3142 |
| DOI: | 10.1111/j.1399-3046.2008.01028.x |
| Popis: | Cernunnos-XLF deficiency is a rare CI characterized by a defective DNA DSB repair mechanism. Its clinical manifestations are growth retardation, dysmorphic features, malformations, and severe B- and T-cell lymphopenia. BM failure may complicate the clinical picture. To date, there have been no described patients with CSy undergoing allogeneic HSCT. We report a case of CSy treated successfully with unrelated allogeneic HSCT after a reduced-intensity conditioning regimen. Two yr after HSCT, the patient maintains full donor engraftment, normal hematopoiesis, and progressively improving immune competence, thus suggesting that HSCT may be the treatment of choice for CSy. |
| Databáze: | OpenAIRE |
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