Submitted May 23, 2006
Accepted August 7, 2006
Successful bone marrow transplantation for IPEX syndrome following reduced intensity conditioning
Aarati Rao, Naynesh Kamani, Alexandra Filipovich, Susan Molleran Lee, Stella Davies, Jignesh Dalal, and Shalini Shenoy*
Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO
Children's National Medical Center, Washington D.C.
Children's Hospital Medical Center, Cincinnati, OH
Children's Mercy Hospital, Kansas City, MO
* Corresponding author; email: shenoy{at}wustl.edu.
IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked disease) is a rare, fatal autoimmune disorder caused by mutations in the FOXP3 gene leading to disruption of signaling pathways involved in regulatory T lymphocyte function. Life-long multi-agent immunosuppression is necessary to control debilitating autoimmune manifestations such as colitis and food allergies. Allogeneic hematopoietic stem cell transplantation (HSCT) can restore T cell regulatory function but has been previously associated with poor outcome. We describe successful HSCT in 4 patients with IPEX syndrome using a novel reduced-intensity conditioning regimen that resulted in stable donor engraftment, reconstitution of FOXP3+ T regulatory CD4+ cells, and amelioration of gastrointestinal symptoms.
