ReviewGenes2021
IPEX Syndrome: Genetics and Treatment Options.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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
34 citing papers in PubMed, 58 citations in OpenAlex.
- Review
- X-Linked immune dysregulation, polyendocrinopathy, and enteropathy (IPEX) syndrome with concurrent membranous and IgA nephropathy: a case report.BMC nephrology · 2026Article
- 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes-2026.Diabetes care · 2026Review
- Alternative cleavage and polyadenylation: key regulatory mechanisms in health and disease.RNA biology · 2025Review
- Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Journal of clinical immunology · 2025Article
- Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.Immunologic research · 2025Review
- Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndromeBiomedica : revista del Instituto Nacional de Salud · 2025Article
- Liver Involvement in Celiac Disease and Immune-Mediated Diseases of the Small Bowel.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Unlocking NAC's potential ATF4 and m6A dynamics in rescuing cognitive impairments in PTSD.Metabolic brain disease · 2025Article
- Reduced autoimmunity associated with deletion of host CD73.ImmunoHorizons · 2025Article
- 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes-2025.Diabetes care · 2025Review
- A splice of life: the discovery, function, and clinical implications of FOXP3 isoforms in autoimmune disease.International immunology · 2024Review
- Article
- Treated and Untreated Primary Progressive Multiple Sclerosis: Walkthrough Immunological Changes of Monocytes and T Regulatory Cells.Biomedicines · 2024Article
- ProbioticNutrients · 2024Article
- A case report of IPEX syndrome in Palestine: detailed family identification and breadth of disorders with the same defect.Frontiers in pediatrics · 2024Article
- Type 1 Diabetes and Other Autoimmune Disorders in Children.Pediatric diabetes · 2024Review
- 2. Diagnosis and Classification of Diabetes: Standards of Care in Diabetes-2024.Diabetes care · 2024Review
- Crucial Role ofDiagnostics (Basel, Switzerland) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
(1) Background: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome characterizes a complex autoimmune reaction beginning in the perinatal period, caused by a dysfunction of the transcription factor forkhead box P3 (FOXP3). (2) Objectives: Studies have shown the clinical, immunological, and molecular heterogeneity of patients with IPEX syndrome. The symptoms, treatment, and survival were closely connected to the genotype of the IPEX syndrome. Recognition of the kind of mutation is important for the diagnostics of IPEX syndrome in newborns and young infants, as well as in prenatal screening. The method of choice for treatment is hematopoietic stem cell transplantation and immunosuppressive therapy. In children, supportive therapy for refractory diarrhea is very important, as well as replacement therapy of diabetes mellitus type 1 (DMT1) and other endocrinopathies. In the future, genetic engineering methods may be of use in the successful treatment of IPEX syndrome. (3) Conclusions: The genetic defects determine a diagnostic approach and prognosis, making the knowledge of the genetics of IPEX syndrome fundamental to introducing novel treatment methods.
Indexed as
Identifiers
What Socratic 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 Socratic graph.