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Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome

Lookup NU author(s): Professor Andrew GenneryORCiD, Professor 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.

Publication metadata

Author(s): Gennery AR, Slatter MA, Bredius RG, Hagleitner MM, Weemaes C, Cant AJ, Lankester AC

Publication type: Article

Publication status: Published

Journal: Pediatrics

Year: 2007

Volume: 120

Issue: 5

Pages: E1341-E1344

ISSN (print): 0031-4005

ISSN (electronic): 1098-4275

Publisher: American Academy of Pediatrics


DOI: 10.1542/peds.2007-0640


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