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.
Publication types
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Clinical Trial
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Multicenter Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Alemtuzumab
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Antibodies, Monoclonal
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Antibodies, Monoclonal, Humanized
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Antibodies, Neoplasm
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Bone Marrow Transplantation*
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Child
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Child, Preschool
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Colitis / genetics
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Endocrine System Diseases / genetics
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Endocrine System Diseases / surgery*
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Food Hypersensitivity / genetics
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Forkhead Transcription Factors / deficiency
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Genes, X-Linked
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Graft Survival
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Humans
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Ichthyosis, X-Linked / genetics
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Ichthyosis, X-Linked / surgery*
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Immunologic Deficiency Syndromes / genetics
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Immunologic Deficiency Syndromes / surgery*
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Infant
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Leukocyte Count
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Melphalan
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Postoperative Complications
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Reoperation
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Syndrome
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Transplantation Conditioning / methods*
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Transplantation, Homologous
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Vidarabine / analogs & derivatives
Substances
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Antibodies, Monoclonal
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Antibodies, Monoclonal, Humanized
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Antibodies, Neoplasm
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FOXP3 protein, human
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Forkhead Transcription Factors
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Alemtuzumab
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Vidarabine
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fludarabine
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Melphalan