ArticleItalian journal of pediatrics2014
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.
Article in Italian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.The Journal of allergy and clinical immunology · 2018Trial
- Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Journal of clinical immunology · 2025Article
- Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.BMC pediatrics · 2024Review
- Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.Journal of clinical immunology · 2024Article
- Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.Biomedicines · 2023Article
- The progress of autoimmune hepatitis research and future challenges.Open medicine (Warsaw, Poland) · 2023Review
- Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Primary immune regulatory disorders: Undiagnosed needles in the haystack?Orphanet journal of rare diseases · 2022Review
- IPEX Syndrome: Genetics and Treatment Options.Genes · 2021Review
- IL-2 Signaling Axis Defects: How Many Faces?Frontiers in pediatrics · 2021Review
- IPEX Syndrome: Improved Knowledge of Immune Pathogenesis Empowers Diagnosis.Frontiers in pediatrics · 2021Review
- Atypical Presentations of IPEX: Expect the Unexpected.Frontiers in pediatrics · 2021Review
- Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature.Paediatric drugs · 2019Review
- Two male siblings with a novelJMM case reports · 2018Article
- Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report.Frontiers in pediatrics · 2017Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.