title: Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.
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.
authors.affiliation: Paediatric Immunology Department, Newcastle General Hospital, Westgate Road, Newcastle Upon Tyne NE4 6BE, United Kingdom. a.r.gennery@ncl.ac.uk
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Gennery
authors.forename: Mary A
authors.initials: MA
authors.lastname: Slatter
authors.forename: Robbert G
authors.initials: RG
authors.lastname: Bredius
authors.forename: Melanie M
authors.initials: MM
authors.lastname: Hagleitner
authors.forename: Corry
authors.initials: C
authors.lastname: Weemaes
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Cant
authors.forename: Arjan C
authors.initials: AC
authors.lastname: Lankester
mesh_terms: D002503:Centromere / Q000235:genetics / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000276:immunology* / Q000601:surgery; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology* / Q000601:surgery; D007223:Infant; D008297:Male; D013577:Syndrome