Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency.

  title={Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency.},
  author={Maura Faraci and Edoardo Lanino and Concetta Micalizzi and Giuseppe Morreale and Daniela Di Martino and Laura Banov and Patrizia Comoli and Franco Locatelli and Annarosa Soresina and Alessandro Plebani},
  journal={Pediatric transplantation},
  volume={13 6},
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… CONTINUE READING


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