ReviewCurrent opinion in pediatrics2013
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.
Review in Current opinion in pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
What it found
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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.
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Who cites it
78 citing papers in PubMed, 170 citations in OpenAlex.
- Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.Blood · 2015Trial
- Trial
- The Cross-Knit Between Immune Cells and Thyroid Function in Autoimmune Thyroid Disorders: What We Can Learn from Inborn Errors of Immunity.Children (Basel, Switzerland) · 2026Review
- Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review.Frontiers in immunology · 2026Review
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).Journal of clinical medicine · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Biochemical investigation of FOXP3 genetic polymorphism and its association with biochemical parameters in pre-eclampsia patients.Naunyn-Schmiedeberg's archives of pharmacology · 2025Article
- Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.Current opinion in allergy and clinical immunology · 2025Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Role of the TGF-β cytokine and its gene polymorphisms in asthma etiopathogenesis.Frontiers in allergy · 2025Review
- Cytokine signaling defects in primary atopic diseases-an updated review.Frontiers in allergy · 2025Review
- Article
- Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.Journal of clinical immunology · 2024Article
- Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma.World journal of diabetes · 2024Article
- Intractable diarrhea in an infant-autoimmune enteropathy: A case report.JPGN reports · 2024Article
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.Frontiers in immunology · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Mucosal viral infection induces a regulatory T cell activation phenotype distinct from tissue residency in mouse and human tissues.Mucosal immunology · 2022Article
18 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
2 authors at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewTo summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders. RECENT
findingsA number of Mendelian disorders of immune dysregulation and autoimmunity have been noted to result from defects in T regulatory cell, development and function. The best characterized of these is IPEX, resulting from mutations affecting FOXP3. A number of other gene defects that affect T regulatory cell function also give rise to IPEX-related phenotypes, including loss-of-function mutations in CD25, STAT5b and ITCH. Recent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3 genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency. SUMMARY: An expanding spectrum of genetic defects that compromise T regulatory cell function underlies human disorders of immune dysregulation and autoimmunity. Collectively, these disorders offer novel insights into pathways of peripheral tolerance and their disruption in autoimmunity.
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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.