The syndrome of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) is a rare disorder caused by mutations in the FOXP3 gene. Diarrhea, diabetes and dermatitis are the hallmark of the disease, with a typical onset within the first months of life. We describe the case of a twelve-year old male affected by a very late-onset IPEX with intractable enteropathy, which markedly improved after starting Sirolimus as second-line treatment. This case suggests that IPEX should always be considered in the differential diagnosis of watery intractable diarrhea, despite its unusual onset.
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| http://dx.doi.org/10.1186/s13052-014-0068-4 | DOI Listing |
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Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
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Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare single-gene X-linked immunodeficiency disease caused by mutations in the forkhead box protein 3 (FOXP3) gene. The typical clinical manifestations of IPEX mainly include severe atopic dermatitis, insulin-dependent type 1 diabetes mellitus, and intractable diarrhea.
Case Presentation: Here, we report a boy with intractable diarrhea diagnosed with early-onset IPEX syndrome due to the c.
Expanding the spectrum of IPEX: from new clinical findings to novel treatments.
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Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS.
Purpose Of Review: This review aims to provide an overview of recent research findings regarding immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, focusing on clinical and immunological novelties, as well as emerging treatment strategies, based on the published literature of the last few years.
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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by multi-systemic autoimmunity secondary to loss-of-function mutations in the gene coding the forkhead box P3 (FOXP3) transcription factor which is important for the development, maturation, and maintenance of CD4 + regulatory T (T-reg) cells. Fewer than 300 affected individuals have been identified worldwide. The occurrence of IPEX is below 1:1,000,000.
View Article and Find Full Text PDFDiverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.
J Clin Immunol
September 2024
Faculty of Medicine, Department of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
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- IPEX is a rare autoimmune disorder caused by FOXP3 variants, presenting diverse symptoms like early-onset diabetes, eczema, and enteropathy, creating challenges in diagnosis and management.
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