ReviewJournal of medical genetics2002
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
Review in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 250 papers, 3 of them syntheses that pooled it.
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.
Reduced Intensity Conditioning (RIC) Regimen for Patients With Non-malignant Disorders
Sequential Transplantation of Umbilical Cord Blood Stem Cells and Islet Cells in Children and Adolescents With Monogenic Immunodeficiency Type 1 Diabetes Mellitus
Who cites it
250 citing papers in PubMed, 3 syntheses or guidelines pooled it, 702 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
- Meta-analysis reveals significant association betweenThe Journal of international medical research · 2021Pooled it
- The Proportion of Regulatory T Cells in Patients with Rheumatoid Arthritis: A Meta-Analysis.PloS one · 2016Pooled it
- The efficacy and safety of short-term and low-dose IL-2 combined with tocilizumab to treat rheumatoid arthritis.Frontiers in immunology · 2024Trial
- 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
- FOXP3 rs3761548 polymorphism is associated with tacrolimus-induced acute nephrotoxicity in renal transplant patients.European journal of clinical pharmacology · 2017Trial
- Boid inclusion body disease iniScience · 2026Article
- Lifetime Atopic Dermatitis is Associated With Risk of Autoimmune Thyroid Disease: Evidence From a Nationwide Study.Allergy, asthma & immunology research · 2026Article
- Autoimmunity and inborn errors of immunity: a complex coexistence.Frontiers in immunology · 2026Review
- Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndromeBiomedica : revista del Instituto Nacional de Salud · 2025Article
- Case Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease.Frontiers in endocrinology · 2025Article
- Nucleotide variation in Foxp3 gene and prognosis of bladder cancer: a case-control study.Frontiers in oncology · 2025Article
- Diabetic Ketoacidosis as the Presentation of Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Syndrome: A Case Report.Case reports in pediatrics · 2025Article
- Article
- Genetic engineering of regulatory T cells for treatment of autoimmune disorders including type 1 diabetes.Diabetologia · 2024Review
- Article
- Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions.World journal of diabetes · 2023Review
- Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.Cell reports · 2023Article
- CTLA-4 antibody-drug conjugate reveals autologous destruction of B-lymphocytes associated with regulatory T cell impairment.bioRxiv : the preprint server for biology · 2023Article
- Mechanisms regulating the loss of Tregs in HUPO mice that develop spontaneous inflammatory arthritis.iScience · 2023Article
190 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lack of working regulatory T cells. We review published reports regarding the genetics, clinical features, immunology, pathology, and treatment of IPEX. We also report three new patients who were treated with long term immunosuppression, followed by bone marrow transplantation in two. IPEX can be differentiated from other genetic immune disorders by its genetics, clinical presentation, characteristic pattern of pathology, and, except for high IgE, absence of substantial laboratory evidence of immunodeficiency. While chronic treatment with immunosuppressive drugs may provide temporary benefit for some patients, it does not cause complete remission. Remission has been observed with bone marrow transplantation despite incomplete engraftment, but the long term outcome is uncertain.
Indexed as
Identifiers
What OpenQuestion holds
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.