ArticleThe Journal of clinical investigation2000
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.
Article in The Journal of clinical investigation, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 367 papers.
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Who cites it
367 citing papers in PubMed, 925 citations in OpenAlex.
- The Vitamin D Antenatal Asthma Reduction Trial (VDAART): rationale, design, and methods of a randomized, controlled trial of vitamin D supplementation in pregnancy for the primary prevention of asthma and allergies in children.Contemporary clinical trials · 2014Trial
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- Targeting the FOXP3-T-bet interaction to restore Treg stability in IFN-γ-driven autoimmunity.Cellular & molecular immunology · 2026Article
- Cytokine-independent activation of STAT5 promotes the persistence and function of CD4Molecular therapy. Advances · 2026Article
- Glutamine-dependent biosynthetic pathways fuel autoreactive T and B cells in Foxp3 deficiency-mediated disease.JCI insight · 2026Article
- Regulatory T cells in the skin: Origin, function, and plasticity.JID innovations : skin science from molecules to population health · 2026Review
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Type 2 conventional dendritic cells and regulatory T cells form a barrier tissue circuit to control allergic inflammation.bioRxiv : the preprint server for biology · 2026Article
- Multimerizing transcription factors FOXP3 and AIRE as chromatin architectural regulators.Nature immunology · 2026Review
- Review
- Decoding Treg diversity and dysfunction to advance Treg-based therapies in autoimmune and inflammatory diseases.Frontiers in immunology · 2026Review
- Restoring balance in atopic disorders: insights into type 2 immunity and chronic inflammation.Frontiers in immunology · 2026Review
- Editorial: The transcriptional and metabolic role of Foxp3 in regulatory T cells.Frontiers in immunology · 2026Article
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- Regulatory T Cell-Based Adoptive Cell Therapy in Autoimmunity.International journal of molecular sciences · 2025Review
- Neonatal regulatory T cells persist into adulthood across multiple tissues with high enrichment in the skin.Science advances · 2025Article
- Inducible protein degradation reveals inflammation-dependent function of the TScience immunology · 2025Article
- Ultrastable and versatile multimeric ensembles of FoxP3 on microsatellites.Molecular cell · 2025Article
- Terminal differentiation and persistence of effector regulatory T cells essential for preventing intestinal inflammation.Nature immunology · 2025Article
- Regulatory T-Cells During Pregnancy Relate to Women's Own Childhood History of Microbial Exposure.American journal of human biology : the official journal of the Human Biology Council · 2025Article
307 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
X-linked autoimmunity-allergic disregulation syndrome (XLAAD) is an X-linked recessive immunological disorder characterized by multisystem autoimmunity, particularly early-onset type 1 diabetes mellitus, associated with manifestations of severe atopy including eczema, food allergy, and eosinophilic inflammation. Consistent with the allergic phenotype, analysis of two kindreds with XLAAD revealed marked skewing of patient T lymphocytes toward the Th2 phenotype. Using a positional-candidate approach, we have identified in both kindreds mutations in JM2, a gene on Xp11.23 that encodes a fork head domain-containing protein. One point mutation at a splice junction site results in transcripts that encode a truncated protein lacking the fork head homology domain. The other mutation involves an in-frame, 3-bp deletion that is predicted to impair the function of a leucine zipper dimerization domain. Our results point to a critical role for JM2 in self tolerance and Th cell differentiation.
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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.