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.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Gennery AR,Slatter MA,Bredius RG,Hagleitner MM,Weemaes C,Cant AJ,Lankester ACdoi
10.1542/peds.2007-0640subject
Has Abstractpub_date
2007-11-01 00:00:00pages
e1341-4issue
5eissn
0031-4005issn
1098-4275pii
peds.2007-0640journal_volume
120pub_type
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