Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome

Magdalena Woźniak, Marta Krzywoń, Mateusz K Hołda, Jolanta Goździk
Pediatric Transplantation 2015, 19 (2): E51-5
NBS is a rare autosomal recessive congenital disorder associated with chromosome instability caused by a mutation in the NBN gene (8q21). Clinical manifestations include microcephaly, growth retardation, combined immunodeficiency, and a strong predisposition to develop (mainly lymphatic) malignancies. There is no specific treatment for patients with NBS, and the prognosis is generally poor. The therapeutic option for some patients with NBS may be HSCT. We present a case of safe and successful non-myeloablative UCB transplantation in the 19th month of the life of a female child with NBS concomitant with SCID.

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