ArticlePediatric nephrology (Berlin, Germany)2007
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy.
Article in Pediatric nephrology (Berlin, Germany), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 44 citations in OpenAlex.
- Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant inJournal of human immunity · 2026Article
- Inborn errors of immunity with kidney and urinary tract disorders: a review.International urology and nephrology · 2024Review
- FOXP3 exon 2 controls TScience immunology · 2022Article
- A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathy.Molecular genetics & genomic medicine · 2022Review
- Non-lupus full-house nephropathy-immune dysregulation as a rare cause of pediatric nephrotic syndrome: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Atypical Presentations of IPEX: Expect the Unexpected.Frontiers in pediatrics · 2021Review
- Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.Journal of clinical medicine · 2020Article
- IPEX as a Consequence of Alternatively Spliced FOXP3.Frontiers in pediatrics · 2020Review
- Alternative Splicing of FOXP3-Virtue and Vice.Frontiers in immunology · 2018Review
- Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.Frontiers in immunology · 2018Article
- Egr2 and Egr3 in regulatory T cells cooperatively control systemic autoimmunity through Ltbp3-mediated TGF-β3 production.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.Pediatric nephrology (Berlin, Germany) · 2015Article
- Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.Journal of pediatric gastroenterology and nutrition · 2014Article
- FOXP3: genetic and epigenetic implications for autoimmunity.Journal of autoimmunity · 2013Review
- Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.Frontiers in immunology · 2012Article
- A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.European journal of pediatrics · 2011Article
- Failure of regulation results in an amplified oxidation burst by neutrophils in children with primary nephrotic syndrome.Clinical and experimental immunology · 2010Article
- Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Pediatric nephrology (Berlin, Germany) · 2009Article
- Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.Diabetes care · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a 6-month-old child presenting with chronic diarrhea, failure to thrive, eczema, autoimmune hemolytic anemia (AIHA), insulin-dependent diabetes mellitus (IDDM), hypoalbuminemia, and proteinuria. Renal biopsy showed membranous glomerulonephritis. A diagnosis of Immunodysregulation, polyendocrinopathy, enteropathy, x-linked (IPEX) syndrome was subsequently confirmed by DNA analysis, which demonstrated the presence of a mutation in exon 2 of the FOXP3 gene (303-304 del TT). Proteinuria secondary to membranous glomerulonephritis is a novel feature of IPEX syndrome. Membranous glomerulonephritis went into remission after the patient had received hematopoietic stem cell transplantation (HSCT).
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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.