ArticleDiabetes care2009
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Article in Diabetes care, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 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
- ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents.Pediatric diabetes · 2018Guideline
- Review
- Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant inJournal of human immunity · 2026Article
- Except the unexpected: A TIPIC syndrome in a child with IPEX.Journal of human immunity · 2026Article
- Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Journal of clinical immunology · 2025Article
- Ultrastable and versatile multimeric ensembles of FoxP3 on microsatellites.Molecular cell · 2025Article
- Epidemiology and temporal trends of childhood type 1 diabetes in China: an analysis of the GBD 2021.Frontiers in endocrinology · 2025Article
- Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.BMC pediatrics · 2024Review
- Article
- FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.Journal of clinical immunology · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Article
- Growth and development in monogenic forms of neonatal diabetes.Current opinion in endocrinology, diabetes, and obesity · 2022Review
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- Identifying the 'Achilles heel' of type 1 diabetes.Clinical and experimental immunology · 2021Review
- Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.Diabetes research and clinical practice · 2021Article
- Searching for Peptide Inhibitors of T Regulatory Cell Activity by Targeting Specific Domains of FOXP3 Transcription Factor.Biomedicines · 2021Article
- Comprehensive Review of Steroid-Sensitive Nephrotic Syndrome Genetic Risk Loci and Transcriptional Regulation as a Possible Mechanistic Link to Disease Risk.Kidney international reports · 2021Article
- Atypical Presentations of IPEX: Expect the Unexpected.Frontiers in pediatrics · 2021Review
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 5 countries.
Funding
Abstract
objectiveImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by FOXP3 mutations. We aimed to determine the prevalence, genetics, and clinical phenotype of FOXP3 mutations in a large cohort with permanent neonatal diabetes (PNDM). RESEARCH DESIGN AND
methodsThe 11 coding exons and the polyadenylation region of FOXP3 were sequenced in 26 male subjects with diabetes diagnosed before 6 months of age in whom common genetic causes of PNDM had been excluded. Ten subjects had at least one additional immune-related disorder, and the remaining 16 had isolated diabetes.
resultsWe identified four hemizygous FOXP3 mutations in 6 of 10 patients with associated immune-related disorders and in 0 of 16 patients with isolated diabetes (P = 0.002). Three patients with two novel mutations (R337Q and P339A) and the previously reported L76QfsX53 developed classic IPEX syndrome and died within the first 13 months. The novel mutation V408M was found in three patients from two unrelated families and had a mild phenotype with hypothyroidism and autoimmune enteropathy (n = 2) or nephrotic syndrome (n = 1) and survival to 12-15 years.
conclusionsFOXP3 mutations result in approximately 4% of cases of male patients with permanent diabetes diagnosed before 6 months. Patients not only have classic IPEX syndrome but, unexpectedly, may have a more benign phenotype. FOXP3 sequencing should be performed in any male patient with the diagnosis of diabetes in the first 6 months who develops other possible autoimmune-associated conditions, even in the absence of full IPEX syndrome.
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Registered trials
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