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Lookup NU author(s): Professor Andrew GenneryORCiD,
Dr Mary Slatter,
Professor Andrew Cant
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Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by mutations in DNMT3B, a DNA methyltransferase gene; associated infections are a major cause of serious sequelae and death. Hematopoietic stem cell transplantation may improve the clinical course in immunodeficiency-centromeric instability-facial dysmorphism syndrome. We report 3 unrelated patients with persistent infections and intestinal complications who successfully underwent hematopoietic stem cell transplantation after nonmyeloablative or myeloablative conditioning regimens using HLA-matched donors. In all cases, donor chimerism led to resolution of intestinal complications and infections, growth improvement, and correction of the immunodeficiency.
Author(s): Gennery AR, Slatter MA, Bredius RG, Hagleitner MM, Weemaes C, Cant AJ, Lankester AC
Publication type: Article
Publication status: Published
ISSN (print): 0031-4005
ISSN (electronic): 1098-4275
Publisher: American Academy of Pediatrics
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