ArticleFrontiers in pediatrics2017
Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report.
Article in Frontiers in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.Journal of clinical immunology · 2023Pooled it
- A hierarchy of intestinal antigens instructs the CD4Immunity · 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
- Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.Cell reports · 2023Article
- Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.Pediatric gastroenterology, hepatology & nutrition · 2023Article
- 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
- Case Report: Eosinophilic gastritis with pyloric stenosis in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Frontiers in pediatrics · 2022Article
- Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.Frontiers in immunology · 2022Article
- Cow's milk allergy non-responsive to amino acid-based formula? A successful transplanted patient with immune dysregulation, polyendocrinopathy, enteropathy, and X-linked syndrome.Clinical case reports · 2021Article
- IPEX Syndrome: Genetics and Treatment Options.Genes · 2021Review
- Article
- IPEX Syndrome: Improved Knowledge of Immune Pathogenesis Empowers Diagnosis.Frontiers in pediatrics · 2021Review
- Atypical Presentations of IPEX: Expect the Unexpected.Frontiers in pediatrics · 2021Review
- IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom.Case reports in immunology · 2020Article
- Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation ofFrontiers in pediatrics · 2019Article
- Safety of fecal microbiota transplantation in Chinese children: A single-center retrospective study.World journal of clinical cases · 2018Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases, which usually appear in the first months of life and cause death without treatment. Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. The boy had intractable diarrhea, abdominal pain, recurrent infections, and failure to thrive. However, diabetes and skin diseases were not observed in the patient. The patient was received metronidazole, teicoplanin, fluconazole, mycamine, ceftriaxone, azithromycin, and fecal microbiota transplantation for treating infections, methylprednisolone and infliximab for suspicion of Crohn's disease after admission. Finally, the boy was diagnosed as IPEX syndrome by genetic test and received hematopoietic stem cell transplantation (HSCT). Our findings suggests that IPEX should be considered in cases of late-onset, mild forms, and less typical clinical manifestations to avoid diagnostic delay.
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Registered trials
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.