ArticleThe Journal of allergy and clinical immunology2019
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4
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Article in The Journal of allergy and clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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44citing papers in PubMed
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44 citing papers in PubMed, 59 citations in OpenAlex.
- Activated PIK3CD drives marginal zone B cell development from early transitional progenitors by enhancing ADAM10 expression.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Abnormal immunoglobulin expression and B-cell follicle organization in inborn errors of immunity/primary immunodeficiency.Virchows Archiv : an international journal of pathology · 2026Article
- A PI3Kδ-Foxo1-FasL signaling amplification loop rewires CD4+ T cell signaling and differentiation.The Journal of experimental medicine · 2026Article
- Deleterious germline CARD11 gain-of-function variants alter human B-cell and CD4+ T-cell differentiation and function.Clinical and experimental immunology · 2026Article
- Microplastic exposure is associated with enhanced PI3K-Akt signaling in DSS-induced colitis: integrated bioinformatics analyses andFrontiers in pharmacology · 2026Article
- T follicular helper cells in primary immune regulatory disorders.The Journal of allergy and clinical immunology · 2025Review
- PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4Immunology and cell biology · 2025Article
- Article
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study.Clinical and experimental immunology · 2025Article
- Activated phosphoinositide 3-kinase delta syndrome: Pathogenesis, clinical manifestations, and treatment.Pediatric discovery · 2024Review
- TThe Journal of allergy and clinical immunology · 2024Review
- Activated PI3Kδ Specifically Perturbs Mouse Regulatory T Cell Homeostasis and Function Leading to Immune Dysregulation.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity.Journal of clinical immunology · 2024Article
- The differentiation courses of the Tfh cells: a new perspective on autoimmune disease pathogenesis and treatment.Bioscience reports · 2024Review
- Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.Immunotherapy advances · 2024Review
- Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.Journal of clinical immunology · 2023Review
- Activated PI3Kδ specifically perturbs mouse Treg homeostasis and function leading to immune dysregulation.bioRxiv : the preprint server for biology · 2023Article
- Review
- Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.The Journal of experimental medicine · 2023Article
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Authors and funding
28 authors at 13 institutions in 5 countries.
Julia BierImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia.
Geetha RaoImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Kathryn PayneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Henry BrigdenImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; University of Bath, Bath, United Kingdom.
Elise FrenchImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; University of Bath, Bath, United Kingdom.
Simon J PelhamImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia.
Anthony LauImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia.
Helen LenthallImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Emily S J EdwardsImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia.
Joanne M SmartDepartment of Allergy and Immunology, Royal Children's Hospital Melbourne, Melbourne, Australia.
Theresa S ColeDepartment of Allergy and Immunology, Royal Children's Hospital Melbourne, Melbourne, Australia.
Sharon ChooDepartment of Allergy and Immunology, Royal Children's Hospital Melbourne, Melbourne, Australia.
Avni Y JoshiDivision of Allergy and Immunology, Mayo Clinic Children's Center, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.
Roshini S AbrahamDivision of Allergy and Immunology, Mayo Clinic Children's Center, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.
Michael O'SullivanDepartment of Immunology and Allergy, Princess Margaret Hospital, Subiaco, Australia.
Kaan BoztugLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; St Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Isabelle MeytsDepartment of Immunology and Microbiology, Childhood Immunology, Department of Pediatrics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
Paul E GraySchool of Women's and Children's Health, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia.
Lucinda J BerglundClinical Immunogenomics Research Consortia Australia, Sydney, Australia; Immunopathology Department, Westmead Hospital, Westmead, Australia; Faculty of Medicine, University of Sydney, Sydney, Australia.
Peter HsuClinical Immunogenomics Research Consortia Australia, Sydney, Australia; Faculty of Medicine, University of Sydney, Sydney, Australia; Children's Hospital at Westmead, Westmead, Australia.
Melanie WongClinical Immunogenomics Research Consortia Australia, Sydney, Australia; Faculty of Medicine, University of Sydney, Sydney, Australia; Children's Hospital at Westmead, Westmead, Australia.
Steven M HollandLaboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Gulbu UzelLaboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia.
Robert BrinkImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia.
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia. Electronic address: s.tangye@garvan.org.au.
Elissa K DeenickImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia. Electronic address: e.deenick@garvan.org.au.
Garvan Institute of Medical Research · AUSt Vincent's Clinic · AUNational Institute of Allergy and Infectious Diseases · USRoyal Children's Hospital · AUChildren's Center · USUNSW Sydney · AUCeMM Research Center for Molecular Medicine · ATChildren's Hospital at Westmead · AUKU Leuven · BEPrincess Margaret Hospital for Children · AUThe University of Sydney · AUUniversity of Bath · GBWestmead Hospital · AU
Funding
Genes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6MTransgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2MCharacterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MIntramural NIH HHS Z99 AI999999
Abstract
backgroundGain-of-function (GOF) mutations in PIK3CD cause a primary immunodeficiency characterized by recurrent respiratory tract infections, susceptibility to herpesvirus infections, and impaired antibody responses. Previous work revealed defects in CD8
objectiveWe sought to dissect the effects of increased phosphoinositide 3-kinase (PI3K) signaling on CD4
methodsWe performed detailed ex vivo, in vivo, and in vitro phenotypic and functional analyses of patients' CD4
resultsPI3K overactivation caused substantial increases in numbers of memory and follicular helper T (T
conclusionOur studies reveal that CD4
Indexed as
CD4-Positive T-LymphocytesCell DifferentiationAnimalsCytokinesGain of Function MutationHumansMicePhenotypePhosphatidylinositol 3-KinasesCytokinesPhosphatidylinositol 3-Kinasesactivated PI3Kδ syndromeCD4(+) T-cell functionfollicular helper T cellshumanshumoral immunityimmune class regulationmouse modelsPhosphoinositide 3-kinasePIK3CD
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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.