ArticleThe Journal of allergy and clinical immunology2017
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
Article in The Journal of allergy and clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 75 citations in OpenAlex.
- Novel Prognostic and Predictive miRNA Biomarkers Shape the Landscape of T Cell Dysfunction in Cancer.Journal of cellular and molecular medicine · 2026Article
- Exploring the role of metabolic disorders and gut microbiome in immune checkpoint regulation in cancer: PI3K/AKT/mTOR focus.Journal of physiology and biochemistry · 2026Review
- Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.Disease models & mechanisms · 2026Article
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.Medicina (Kaunas, Lithuania) · 2024Review
- Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.Immunotherapy advances · 2024Review
- A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children WithGastro hep advances · 2024Article
- Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.Journal of clinical immunology · 2023Review
- A New Frameshift Mutation ofGenes · 2023Review
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.Biomolecules · 2023Review
- Emerging roles of PHLPP phosphatases in lung cancer.Frontiers in oncology · 2023Review
- Metformin may induce immunologic tolerance at the maternal-foetal interface in early human pregnancy.American journal of translational research · 2023Article
- PTEN hamartoma tumor syndrome in childhood and adolescence-a comprehensive review and presentation of the German pediatric guideline.Molecular and cellular pediatrics · 2022Review
- The role of metabolism on regulatory T cell development and its impact in tumor and transplantation immunity.Frontiers in immunology · 2022Review
- BCG Vaccine-Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome.Journal of clinical immunology · 2021Article
- PHLPPing the Script: Emerging Roles of PHLPP Phosphatases in Cell Signaling.Annual review of pharmacology and toxicology · 2021Review
- Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta Syndromes.Frontiers in pediatrics · 2021Review
- Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome.JCO precision oncology · 2021Article
- A new human adipocyte model with PTEN haploinsufficiency.Adipocyte · 2020Article
Corrections and comments
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Authors and funding
27 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundPatients with heterozygous germline mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN) experience autoimmunity and lymphoid hyperplasia.
objectivesBecause regulation of the phosphoinositide 3-kinase (PI3K) pathway is critical for maintaining regulatory T (Treg) cell functions, we investigate Treg cells in patients with heterozygous germline PTEN mutations (PTEN hamartoma tumor syndrome [PHTS]).
methodsPatients with PHTS were assessed for immunologic conditions, lymphocyte subsets, forkhead box P3 (FOXP3)
resultsAutoimmunity and peripheral lymphoid hyperplasia were found in 43% of 79 patients with PHTS. Immune dysregulation in patients with PHTS included lymphopenia, CD4
conclusionHeterozygous loss of function of PTEN in human subjects has a significant effect on T- and B-cell immunity. Assembly of the PTEN-PHLPP phosphatase network allows coordinated phosphatase activities at the site of T-cell receptor activation, which is important for limiting PI3K hyperactivation in Treg cells despite PTEN haploinsufficiency.
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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.