Abstract
We report here on the clinical, histological and immunological findings regarding a patient with immunodysregulation polyendocrinopathy enteropathy X-linked syndrome who was treated for the first 21 years with a combination of immunosuppressant agents (IS). The potential modalities of care and treatment options in this rare and severe immune-mediated disorder are discussed. So, long-term outcome for IPEX patients can be obtained with immunosuppressive treatment, which is important since the outcome of haematopoietic stem cell transplantation for this population is variable.
Copyright © 2015. Published by Elsevier Masson SAS.
MeSH terms
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Cyclosporine / therapeutic use
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Diabetes Mellitus, Type 1 / congenital*
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Diabetes Mellitus, Type 1 / drug therapy
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Diarrhea / drug therapy*
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Drug Therapy, Combination
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Endoscopy, Gastrointestinal
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Follow-Up Studies
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Genetic Diseases, X-Linked / drug therapy*
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Glomerular Filtration Rate
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Glucocorticoids / therapeutic use
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Humans
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Immune System Diseases / congenital*
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Immune System Diseases / drug therapy
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Immunoglobulin E / blood
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Immunosuppressive Agents / therapeutic use
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Infant, Newborn
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Liver Cirrhosis / pathology
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Male
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Mycophenolic Acid / analogs & derivatives
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Mycophenolic Acid / therapeutic use
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Prednisolone / therapeutic use
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Young Adult
Substances
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Glucocorticoids
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Immunosuppressive Agents
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Immunoglobulin E
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Cyclosporine
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Prednisolone
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Mycophenolic Acid
Supplementary concepts
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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome