Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning

Aarati Rao, Naynesh Kamani, Alexandra Filipovich, Susan Molleran Lee, Stella M. Davies, Jignesh Dalal, Shalini Shenoy

Research output: Contribution to journalArticlepeer-review

136 Scopus citations

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, fatal autoimmune disorder caused by mutations in the FOXP3 gene leading to the disruption of signaling pathways involved in regulatory T-lymphocyte function. Lifelong multiagent 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.

Original languageEnglish
Pages (from-to)383-385
Number of pages3
JournalBlood
Volume109
Issue number1
DOIs
StatePublished - Jan 1 2007

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