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

Pediatrics. 2007 Nov;120(5):e1341-4. doi: 10.1542/peds.2007-0640. Epub 2007 Oct 1.

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.

Publication types

  • Case Reports

MeSH terms

  • Centromere / genetics
  • Centromere / immunology*
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / immunology*
  • Craniofacial Abnormalities / surgery
  • Female
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / surgery
  • Infant
  • Male
  • Syndrome