Published online October 1, 2007
PEDIATRICS Vol. 120 No. 5 November 2007, pp. e1341-e1344 (doi:10.1542/peds.2007-0640)
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EXPERIENCE & REASON

Hematopoietic Stem Cell Transplantation Corrects the Immunologic Abnormalities Associated With Immunodeficiency–Centromeric Instability–Facial Dysmorphism Syndrome

Andrew R. Gennery, MDa, Mary A. Slatter, MDa, Robbert G. Bredius, PhDb, Melanie M. Hagleitner, PhDb, Corry Weemaes, PhDc, Andrew J. Cant, MDa and Arjan C. Lankester, PhDb

a Paediatric Immunology Department, Newcastle General Hospital, Newcastle Upon Tyne, United Kingdom
b Department of Pediatrics, Bone Marrow Transplant Unit, Leiden University Medical Center, Leiden, Netherlands
c Department of Pediatrics, Nijmegen University Medical Center, Nijmegen, Netherlands

ABSTRACT

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.

Key Words: immunodeficiency • centromeric instability • facial dysmorphism syndrome • hematopoietic stem cell transplantation • DNMT3B

Abbreviations: ICF, immunodeficiency–centromeric instability–facial dysmorphism • HSCT, hematopoietic stem cell transplantation • GvHD, graft-versus-host disease

Accepted May 2, 2007.


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M M Hagleitner, A Lankester, P Maraschio, M Hulten, J P Fryns, C Schuetz, G Gimelli, E G Davies, A Gennery, B H Belohradsky, et al.
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
J. Med. Genet., February 1, 2008; 45(2): 93 - 99.
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