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Hematopoietic Stem Cell Transplantation Corrects the Immunologic Abnormalities Associated With Immunodeficiency–Centromeric Instability–Facial Dysmorphism Syndrome
- Source :
- Pediatrics (Evanston), 120, e1341-4, Pediatrics (Evanston), 120, 5, pp. e1341-4
- Publication Year :
- 2007
- Publisher :
- American Academy of Pediatrics (AAP), 2007.
-
Abstract
- Contains fulltext : 53635.pdf (Publisher’s version ) (Closed access) 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.
- Subjects :
- Male
Pathology
medicine.medical_specialty
medicine.medical_treatment
Centromere
DNMT3B
Hematopoietic stem cell transplantation
Craniofacial Abnormalities
Facial dysmorphism
medicine
Humans
Epigenetics
Child
Immunodeficiency
business.industry
Myeloablative conditioning
Hematopoietic Stem Cell Transplantation
Immunologic Deficiency Syndromes
Clinical course
Infant
Syndrome
medicine.disease
Pathogenesis and modulation of inflammation [N4i 1]
Child, Preschool
Pediatrics, Perinatology and Child Health
Immunology
Female
Microbial pathogenesis and host defense [UMCN 4.1]
business
Centromeric instability
Subjects
Details
- ISSN :
- 10984275 and 00314005
- Volume :
- 120
- Database :
- OpenAIRE
- Journal :
- Pediatrics
- Accession number :
- edsair.doi.dedup.....c20f720ac930170a9c02d2f18eeb6d55