TY - JOUR
T1 - Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency
AU - Faraci, Maura
AU - Lanino, Edoardo
AU - Micalizzi, Concetta
AU - Morreale, Giuseppe
AU - Di Martino, Daniela
AU - Banov, Laura
AU - Comoli, Patrizia
AU - Locatelli, Franco
AU - Soresina, Annarosa
AU - Plebani, Alessandro
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
KW - Cernunnos syndrome
KW - congenital immunodeficiency
KW - Epstein-Barr virus-post-transplantation lymphoproliferative disease
KW - hematopoietic stem cell transplantation
KW - Cernunnos syndrome
KW - congenital immunodeficiency
KW - Epstein-Barr virus-post-transplantation lymphoproliferative disease
KW - hematopoietic stem cell transplantation
UR - http://hdl.handle.net/10807/257671
U2 - 10.1111/j.1399-3046.2008.01028.x
DO - 10.1111/j.1399-3046.2008.01028.x
M3 - Article
SN - 1397-3142
VL - 13
SP - 785
EP - 789
JO - Pediatric Transplantation
JF - Pediatric Transplantation
ER -