Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency

Maura Faraci, Edoardo Lanino, Concetta Micalizzi, Giuseppe Morreale, Daniela Di Martino, Laura Banov, Patrizia Comoli, Franco Locatelli, Annarosa Soresina, Alessandro Plebani

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)785-789
Number of pages5
JournalPediatric Transplantation
Issue number6
Publication statusPublished - Sep 2009


  • Cernunnos syndrome
  • Congenital immunodeficiency
  • Epstein-Barr virus-post-transplantation lymphoproliferative disease
  • Hematopoietic stem cell transplantation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation


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