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Article

Unrelated hematopoietic stem cell transplantation for Cernunnos‐XLF deficiency

26 Nov 2008

Abstract excerpt

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...

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PMID: 19067926
DOI: 10.1111/j.1399-3046.2008.01028.x

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