Abstract
IPEX syndrome (immune deficiency, polyendocrinopathy, enteropathy, X-linked) is a disorder or regulatory T cell (Treg) function which can result in early death due to infection or complications related to autoimmunity. Therapeutic options for these patients can include allogeneic stem cell transplantation (SCT) or the use of immunosuppressive regimens to control the manifestations of autoimmunity. We report a patient with IPEX syndrome who was managed with rapamycin and subsequently developed EBV induced lymphoma.
(c) 2008 Wiley-Liss, Inc.
MeSH terms
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Child
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Epstein-Barr Virus Infections / drug therapy
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Epstein-Barr Virus Infections / virology*
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Genetic Diseases, X-Linked / complications*
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Genetic Diseases, X-Linked / pathology
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Genetic Diseases, X-Linked / therapy
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Herpesvirus 4, Human / pathogenicity*
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Humans
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Immunologic Deficiency Syndromes / complications*
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Immunologic Deficiency Syndromes / pathology
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Immunologic Deficiency Syndromes / therapy
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Immunosuppressive Agents / therapeutic use
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Infant
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Lymphoma / drug therapy
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Lymphoma / virology*
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Male
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Polyendocrinopathies, Autoimmune / complications*
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Polyendocrinopathies, Autoimmune / pathology
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Polyendocrinopathies, Autoimmune / therapy
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Protein-Losing Enteropathies / complications*
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Protein-Losing Enteropathies / pathology
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Protein-Losing Enteropathies / therapy
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Sirolimus / therapeutic use
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Syndrome
Substances
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Immunosuppressive Agents
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Sirolimus