Reduced‐intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome. (19th December 2014)

• Record Type: Journal Article
• Authors: Woźniak, Magdalena; Krzywoń, Marta; Hołda, Mateusz K.; Goździk, Jolanta
• Is Part Of: Pediatric transplantation. Volume 19:Number 2(2015:Mar.)
• Page Start: E51
• Page End: E55
• Publication Date: 2014-12-19
• Subjects: Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.12420
• Languages: English
• ISSNs: 1397-3142

Abstract

<abstract abstract-type="main" id="petr12420-abs-0001"> <title>Abstract</title> <p>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.</p> </abstract>