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

American Academy of Pediatrics (AAP) - Tập 120 Số 5 - Trang e1341-e1344 - 2007
Andrew R. Gennery1, Mary Slatter1, Robbert G. M. Bredius2, Melanie M. Hagleitner2, Corry M.R. Weemaes3, Andrew J. Cant1, Arjan C. Lankester2
1Paediatric Immunology Department, Newcastle General Hospital, Newcastle Upon Tyne, United Kingdom
2Department of Pediatrics, Bone Marrow Transplant Unit, Leiden University Medical Center, Leiden, Netherlands
3Department of Pediatrics, Nijmegen University Medical Center, Nijmegen, Netherlands

Tóm tắt

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.

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Tài liệu tham khảo

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