ArticleThe Journal of experimental medicine2018
Germline-activating mutations in
Open access · bronzeAbstract read
In one paragraph
Article in The Journal of experimental medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 4% of its field
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
64 citing papers in PubMed, 1 synthesis or guideline pooled it, 97 citations in OpenAlex.
- Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS).BMC immunology · 2025Pooled it
- Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.Blood · 2020Trial
- A guide to B cell metabolism.Nature reviews. Immunology · 2026Review
- 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
- Conserved noncoding sequence-9 regulates NFATc1-mediated IL-10 expression in B cells to control inflammatory responses.Science advances · 2026Article
- Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.Nature immunology · 2026Article
- Deleterious germline CARD11 gain-of-function variants alter human B-cell and CD4+ T-cell differentiation and function.Clinical and experimental immunology · 2026Article
- PI3Kdelta-driven expansion of regulatory B cells impairs protective immune responses to Trypanosoma congolense parasite infection.PLoS pathogens · 2025Article
- 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
- Senescent B cells regulate CD38 expression via FOXO1 in pneumonia resulting fromLife medicine · 2025Article
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- SIV-specific neutralizing antibody induction following selection of a PI3K drive-attenuatedeLife · 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
- Article
- Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity.Journal of clinical immunology · 2024Article
- Expert insights on Hodgkin's lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment.Frontiers in immunology · 2024Article
- Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.Immunotherapy advances · 2024Review
- Leniolisib: a novel treatment for activated phosphoinositide-3 kinase delta syndrome.Frontiers in pharmacology · 2024Article
- PI3Kδ Pathway Dysregulation and Unique Features of Its Inhibition by Leniolisib in Activated PI3Kδ Syndrome and Beyond.The journal of allergy and clinical immunology. In practice · 2024Article
- Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.Journal of clinical immunology · 2023Review
4 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
34 authors at 11 institutions in 5 countries.
Danielle T AveryImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0002-9156-0489
Alisa KaneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Tina NguyenImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Anthony LauImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Akira NguyenImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0001-7757-5417
Helen LenthallImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Kathryn PayneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0003-3311-5210
Wei ShiMolecular Immunology and Bioinformatics Divisions, Walter & Eliza Hall Institute for Medical Research, Parkville, Victoria, Australia.
Henry BrigdenImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Elise FrenchImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Julia BierImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0001-7727-1149
Jana R HermesImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
David ZahraImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
William A SewellImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0002-3586-8761
Danyal ButtImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0001-8191-2025
Michael ElliottSydney Medical School, University of Sydney, Sydney, Australia.
Kaan BoztugLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.ORCID 0000-0001-8387-9185
Isabelle MeytsDepartment of Immunology and Microbiology, Childhood Immunology, Department of Pediatrics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
Sharon ChooDepartment of Allergy and Immunology, Royal Children's Hospital Melbourne, Victoria, Australia.
Peter HsuClinical Immunogenomics Research Consortia Australia (CIRCA), Sydney, New South Wales, Australia.
Melanie WongClinical Immunogenomics Research Consortia Australia (CIRCA), Sydney, New South Wales, Australia.
Lucinda J BerglundClinical Immunogenomics Research Consortia Australia (CIRCA), Sydney, New South Wales, Australia.ORCID 0000-0002-6595-9947
Paul GrayClinical Immunogenomics Research Consortia Australia (CIRCA), Sydney, New South Wales, Australia.
Michael O'SullivanDepartment of Immunology and Allergy, Princess Margaret Hospital, Subiaco, Western Australia, Australia.ORCID 0000-0001-7896-2697
Theresa ColeDepartment of Allergy and Immunology, Royal Children's Hospital Melbourne, Victoria, Australia.
Steven M HollandLaboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID 0000-0003-3207-5464
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Christoph BurkhartNovartis Institutes for BioMedical Research, Novartis Pharma AG, Basel, Switzerland.
Lynn M CorcoranMolecular Immunology and Bioinformatics Divisions, Walter & Eliza Hall Institute for Medical Research, Parkville, Victoria, Australia.ORCID 0000-0003-4493-5011
Tri Giang PhanImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0002-4909-2984
Robert BrinkImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Gulbu UzelLaboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Elissa K DeenickImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia e.deenick@garvan.org.au.ORCID 0000-0002-9271-0004
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia s.tangye@garvan.org.au.ORCID 0000-0002-5360-5180
Garvan Institute of Medical Research · AUChildren's Hospital at Westmead · AUNational Institutes of Health · USRoyal Children's Hospital · AUThe University of Melbourne · AUThe University of Sydney · AUAustrian Academy of Sciences · ATKU Leuven · BENovartis (Switzerland) · CHPrincess Margaret Hospital for Children · AUUNSW Sydney · 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
$22.2MAbstract
Gain-of-function (GOF) mutations in
Indexed as
AnimalsAntibody AffinityB-LymphocytesBone Marrow CellsCell DifferentiationCell ProliferationChildClass I Phosphatidylinositol 3-KinasesGain of Function MutationGerm-Line MutationHumansImmunoglobulin Class SwitchingImmunoglobulinsInterleukin-21InterleukinsMiceClass I Phosphatidylinositol 3-KinasesImmunoglobulinsInterleukin-21InterleukinsPhosphatidylinositol 3-KinasesPIK3CD protein, humanPik3cd protein, mouse
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Registered trials
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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.