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A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report

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dc.contributor.author O'Gorman, Clodagh S.
dc.contributor.author Shulman, Rayzel M
dc.contributor.author Lara-Corrales, Irene
dc.contributor.author Pope, Elena
dc.contributor.author Marcon, Margaret
dc.contributor.author Grasemann, Hartmut
dc.contributor.author Schneider, Rayfel
dc.contributor.author Upton, Julia
dc.contributor.author Sochett, Etienne B
dc.contributor.author Kolfin, Dror
dc.contributor.author Cohen, Eyal
dc.date.accessioned 2013-04-03T11:33:11Z
dc.date.available 2013-04-03T11:33:11Z
dc.date.issued 2013
dc.identifier.uri http://hdl.handle.net/10344/3005
dc.description peer-reviewed en_US
dc.description.abstract Introduction: Common features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia include candidiasis, hypoparathyroidism and hypoadrenalism. The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be autoimmune hepatitis, keratoconjunctivitis, frequent fever with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis. Case presentation: We discuss a profoundly affected 2.9-year-old Caucasian girl of Western European descent with a dramatic response to immunosuppression (initially azathioprine and oral steroids, and then subsequently mycophenolate mofetil monotherapy). At four years of follow-up, her response to mycophenolate mofetil is excellent. Conclusion: The clinical features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may continue for years before some of the more common components appear. In such cases, it may be life-saving to diagnose autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia and commence therapy with immunosuppressive agents. The response of our patient to immunosuppression with mycophenolate mofetil has been dramatic. It is possible that other patients with this condition might also benefit from immunosuppression. en_US
dc.language.iso eng en_US
dc.publisher BioMed Central Ltd en_US
dc.relation.ispartofseries Journal of Medical Case Reports;7:44
dc.relation.uri http://dx.doi.org/10.1186/1752-1947-7-44
dc.subject APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia) en_US
dc.subject APS (autoimmune polyendocrinopathy syndrome) en_US
dc.subject autoimmunity en_US
dc.subject immunosuppression en_US
dc.subject endocrinopathies en_US
dc.title A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report en_US
dc.type info:eu-repo/semantics/article en_US
dc.type.supercollection all_ul_research en_US
dc.type.supercollection ul_published_reviewed en_US
dc.identifier.doi 10.1186/1752-1947-7-44
dc.rights.accessrights info:eu-repo/semantics/openAccess en_US


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