Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation

D Cagdas, TT Ozgur, GT Asal, P Revy, JP de Villartay, Mirjam van der Burg, O Sanal, I Tezcan

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Abstract

Cagdas D, Ozgur TT, Asal GT, Revy P, De Villartay J-P, van der Burg M, Sanal O, Tezcan I. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. Abstract: SCID affects T and B cell differentiation and functions, presenting with severe opportunistic infections in the early postnatal period. It is fatal unless stem cell transplantation is performed. RS SCID forms are caused by defects in the NHEJ pathway, the enzymatic process required for the repair of DNA double-strand breaks. Cernunnos-XLF defect is one of the defects in this pathway. Here, we present two patients with Cernunnos-XLF defect, both having microcephaly, prominent growth retardation, and T-B-NK+SCID, one of whom had AHA. These patients received hematopoietic stem cells from HLA identical related donor without conditioning regimen and recovered without any complication. Now, both of the patients are well and alive seven and one yr after transplantation, respectively. A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation.
Original languageUndefined/Unknown
Pages (from-to)E167-E171
JournalPediatric Transplantation
Volume16
Issue number5
DOIs
Publication statusPublished - 2012

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