{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:01:28Z","timestamp":1790067688418,"version":"4.0.1"},"reference-count":100,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6715","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Science"],"published-print":{"date-parts":[[2024,9,20]]},"abstract":"<jats:p>\n            Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in\n            <jats:italic>GNAI2<\/jats:italic>\n            , which encodes G\n            <jats:sub>\u03b1i2<\/jats:sub>\n            , a key component in heterotrimeric G protein signal transduction usually thought to regulate adenylyl cyclase\u2013mediated cyclic adenosine monophosphate (cAMP) production. Patients with activating G\n            <jats:sub>\u03b1i2<\/jats:sub>\n            mutations had clinical presentations that included impaired immunity. Mutant G\n            <jats:sub>\u03b1i2<\/jats:sub>\n            impaired cell migration and augmented responses to T cell receptor (TCR) stimulation. We found that mutant G\n            <jats:sub>\u03b1i2<\/jats:sub>\n            influenced TCR signaling by sequestering the guanosine triphosphatase (GTPase)\u2013activating protein RASA2, thereby promoting RAS activation and increasing downstream extracellular signal\u2013regulated kinase (ERK)\/mitogen-activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K)\u2013AKT S6 signaling to drive cellular growth and proliferation.\n          <\/jats:p>","DOI":"10.1126\/science.add8947","type":"journal-article","created":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T18:00:23Z","timestamp":1726768823000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":31,"title":["Germline mutations in a G protein identify signaling cross-talk in T cells"],"prefix":"10.1126","volume":"385","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8669-6875","authenticated-orcid":true,"given":"Hyoungjun","family":"Ham","sequence":"first","affiliation":[{"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA."},{"name":"Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA."},{"name":"Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6283-3452","authenticated-orcid":true,"given":"Huie","family":"Jing","sequence":"additional","affiliation":[{"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA."},{"name":"Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1490-3667","authenticated-orcid":true,"given":"Ian T.","family":"Lamborn","sequence":"additional","affiliation":[{"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA."},{"name":"Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA."},{"name":"Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3909-9573","authenticated-orcid":true,"given":"Megan M.","family":"Kober","sequence":"additional","affiliation":[{"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA."},{"name":"Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8920-4426","authenticated-orcid":true,"given":"Alexey","family":"Koval","sequence":"additional","affiliation":[{"name":"Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yamina A.","family":"Berchiche","sequence":"additional","affiliation":[{"name":"Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6838-0201","authenticated-orcid":true,"given":"D. Eric","family":"Anderson","sequence":"additional","affiliation":[{"name":"Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5834-6501","authenticated-orcid":true,"given":"Kirk M.","family":"Druey","sequence":"additional","affiliation":[{"name":"Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, DIR, NIAID, NIH, Bethesda, MD, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6512-3437","authenticated-orcid":true,"given":"Judith N.","family":"Mandl","sequence":"additional","affiliation":[{"name":"Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, 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