Select Publications
Book Chapters
, 2022, 'PI3K Isoforms in B Cells', in PI3K and AKT Isoforms in Immunity: Mechanisms and Therapeutic Opportunities, pp. 235 - 254, http://dx.doi.org/10.1007/978-3-031-06566-8_10
, 2005, 'Monitoring T cell proliferation', in Analyzing T Cell Responses how to Analyze Cellular Immune Responses Against Tumor Associated Antigens, pp. 123 - 141, http://dx.doi.org/10.1007/1-4020-3623-X_6
Journal articles
, 2025, 'Long-Term Clinical and Immunological Outcomes of Transplantation in Inborn Errors of Immunity', Journal of Human Immunity, 1, http://dx.doi.org/10.70962/ascia2025abstract.p180
, 2025, 'PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4+ T cells', Immunology and Cell Biology, 103, pp. 884 - 896, http://dx.doi.org/10.1111/imcb.70058
, 2025, 'Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation', European Journal of Immunology, 55, http://dx.doi.org/10.1002/eji.70015
, 2025, 'Macrophages direct location-dependent recall of B cell memory to vaccination', Cell, 188, pp. 3477 - 3496.e22, http://dx.doi.org/10.1016/j.cell.2025.04.005
, 2025, 'EML4 Deficiency Causes Alveolar Macrophage Dysfunction and Interstitial Lung Disease', Journal of Human Immunity, 1, http://dx.doi.org/10.70962/cis2025abstract.112
, 2025, 'A semi-automated ASC speck assay to evaluate pyrin inflammasome activation', Clinical and Translational Immunology, 14, http://dx.doi.org/10.1002/cti2.70054
, 2025, 'Utilising ASC Speck Assay to interrogate the pathogenicity of MEFV variants', Pathology, 57, pp. S28 - S29, http://dx.doi.org/10.1016/j.pathol.2024.12.138
, 2024, 'Painful memories boost protective immunity', Cell Research, 34, pp. 751 - 752, http://dx.doi.org/10.1038/s41422-024-01002-6
, 2024, 'Inherited human RelB deficiency impairs innate and adaptive immunity to infection', Proceedings of the National Academy of Sciences of the United States of America, 121, http://dx.doi.org/10.1073/pnas.2321794121
, 2023, 'Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2', The Journal of experimental medicine, 220, pp. e20221020, http://dx.doi.org/10.1084/jem.20221020
, 2023, 'Monitoring AKT activity and targeting in live tissue and disease contexts using a real-time Akt-FRET biosensor mouse', Science Advances, 9, http://dx.doi.org/10.1126/sciadv.adf9063
, 2023, 'CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells', Frontiers in Immunology, 14, http://dx.doi.org/10.3389/fimmu.2023.1095257
, 2023, 'Inborn errors of human B cell development, differentiation, and function', Journal of Experimental Medicine, 220, http://dx.doi.org/10.1084/jem.20221105
, 2023, 'Tracking the clonal dynamics of SARS-CoV-2-specific T cells in children and adults with mild/asymptomatic COVID-19', Clinical Immunology, 246, http://dx.doi.org/10.1016/j.clim.2022.109209
, 2022, 'Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency', Journal of Clinical Investigation, 132, http://dx.doi.org/10.1172/JCI160929
, 2022, 'STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis', Journal of Allergy and Clinical Immunology, 150, pp. 931 - 946, http://dx.doi.org/10.1016/j.jaci.2022.04.011
, 2022, 'For whom the B cells toll', Immunology and Cell Biology, 100, pp. 479 - 481, http://dx.doi.org/10.1111/imcb.12565
, 2022, 'Analysing the cellular mechanisms underlying activated PI3K δ Syndrome (APDS) reveals differences between APDS1 and APDS2', JOURNAL OF IMMUNOLOGY, 208, http://dx.doi.org/10.4049/jimmunol.208.Supp.159.15
, 2022, 'T cell extrinsic mechanics explaining the T cell hyperactivation seen in Activated PI3K δ Syndrome', JOURNAL OF IMMUNOLOGY, 208, http://dx.doi.org/10.4049/jimmunol.208.Supp.159.05
, 2022, 'The role of dysregulated PI3Kdelta signaling in human autoimmunity*', Immunological Reviews, 307, pp. 134 - 144, http://dx.doi.org/10.1111/imr.13067
, 2021, 'Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency', Journal of Clinical Immunology, 41, pp. 1272 - 1290, http://dx.doi.org/10.1007/s10875-021-01031-5
, 2021, 'Phosphatidylinositol 3-kinase signaling and immune regulation: insights into disease pathogenesis and clinical implications', Expert Review of Clinical Immunology, 17, pp. 905 - 914, http://dx.doi.org/10.1080/1744666X.2021.1945443
, 2020, 'B cells: we need them now more than ever', Immunology and Cell Biology, 98, pp. 437 - 438, http://dx.doi.org/10.1111/imcb.12348
, 2020, 'Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency', Journal of Clinical Immunology, 40, pp. 774 - 779, http://dx.doi.org/10.1007/s10875-020-00804-8
, 2020, 'Molecular and cellular mechanisms underlying defective antibody responses', Immunology and Cell Biology, 98, pp. 467 - 479, http://dx.doi.org/10.1111/imcb.12345
, 2020, 'A divergent transcriptional landscape underpins the development and functional branching of MAIT cells', The Journal of Immunology, 204, pp. 223.8 - 223.8, http://dx.doi.org/10.4049/jimmunol.204.supp.223.8
, 2020, 'NK Cells Regulate CD8+ T Cell Mediated Autoimmunity', Frontiers in Cellular and Infection Microbiology, 10, http://dx.doi.org/10.3389/fcimb.2020.00036
, 2020, 'Activated PI3Kd breaches multiple B cell tolerance checkpoints and causes autoantibody production', Journal of Experimental Medicine, 217, http://dx.doi.org/10.1084/jem_20191336
, 2019, 'Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells', Journal of Allergy and Clinical Immunology, 144, pp. 236 - 253, http://dx.doi.org/10.1016/j.jaci.2019.01.033
, 2019, 'B cell–intrinsic requirement for STK4 in humoral immunity in mice and human subjects', Journal of Allergy and Clinical Immunology, 143, pp. 2302 - 2305, http://dx.doi.org/10.1016/j.jaci.2019.02.010
, 2019, 'Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect', Journal of Clinical Immunology, 39, pp. 148 - 158, http://dx.doi.org/10.1007/s10875-019-00612-9
, 2019, 'A divergent transcriptional landscape underpins the development and functional branching of MAIT cells', Science Immunology, 4, http://dx.doi.org/10.1126/sciimmunol.aay6039
, 2019, 'Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity', Journal of Allergy and Clinical Immunology, 143, pp. 276 - 291.e6, http://dx.doi.org/10.1016/j.jaci.2018.04.030
, 2018, 'Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency', Nature Immunology, 19, pp. 973 - 985, http://dx.doi.org/10.1038/s41590-018-0178-z
, 2018, 'Germline-activating mutations in PIK3CD compromise B cell development and function', Journal of Experimental Medicine, 215, pp. 2073 - 2095, http://dx.doi.org/10.1084/jem.20180010
, 2018, 'Signal transducer and activator of transcription 3 control of human T and B cell responses', Frontiers in Immunology, 9, http://dx.doi.org/10.3389/fimmu.2018.00168
, 2018, 'Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency', Journal of Clinical Immunology, 38, pp. 159 - 162, http://dx.doi.org/10.1007/s10875-018-0477-z
, 2018, 'A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity', Science Immunology, 3, http://dx.doi.org/10.1126/sciimmunol.aat4956
, 2018, 'Human IFN- immunity to mycobacteria is governed by both IL-12 and IL-23', Science Immunology, 3, http://dx.doi.org/10.1126/sciimmunol.aau6759
, 2017, 'Cytokine-mediated regulation of human lymphocyte development and function: Insights from primary immunodeficiencies', Journal of Immunology, 199, pp. 1949 - 1958, http://dx.doi.org/10.4049/jimmunol.1700842
, 2017, 'The TORC that Gets the GC Cycling', Immunity, 46, pp. 974 - 976, http://dx.doi.org/10.1016/j.immuni.2017.06.003
, 2017, 'Potent antitumour activity of interleukin-2-Fc fusion proteins requires Fc-mediated depletion of regulatory T-cells', Nature Communications, 8, pp. 15373, http://dx.doi.org/10.1038/ncomms15373
, 2017, 'Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency', Journal of Clinical Investigation, 127, pp. 1991 - 2006, http://dx.doi.org/10.1172/JCI90727
, 2017, 'The circulating life of a memory T-follicular helper cell', Clinical and Translational Immunology, 6, http://dx.doi.org/10.1038/CTI.2017.17
, 2017, 'The circulating life of a memory T-follicular helper cell', Clinical and Translational Immunology, 6, http://dx.doi.org/10.1038/CTI.2017.26
, 2016, 'B-cell–specific STAT3 deficiency: Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome', Journal of Allergy and Clinical Immunology, 138, pp. 1455 - 1458.e3, http://dx.doi.org/10.1016/j.jaci.2016.05.018
, 2016, 'Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome', Journal of Allergy and Clinical Immunology, 138, pp. 1210 - 1213.e5, http://dx.doi.org/10.1016/j.jaci.2016.04.020
, 2016, 'Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets', Journal of Experimental Medicine, 213, pp. 1589 - 1608, http://dx.doi.org/10.1084/jem.20151467