{"id":"W4404529846","doi":"10.1084/jem.20220979","title":"Dominant negative variants in <i>ITPR3</i> impair T cell Ca2+ dynamics causing combined immunodeficiency","year":2024,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Great Ormond Street Institute of Child Health; Cambridge Institute for Medical Research, University of Cambridge; Medical Research Council; University of Oxford; Albert-Ludwigs-Universität Freiburg; University College London; Imperial College London; National Institute for Health and Care Research; Great Ormond Street Hospital Charity; Department of Health and Social Care; Cancer Research UK; Fundación Alfonso Martín Escudero; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; UK Research and Innovation; Wellcome Trust","keywords":"ORAI1; Endoplasmic reticulum; NFAT; Cell biology; Biology; ER retention; Haploinsufficiency; STIM1; Immunodeficiency; T-cell receptor; Calcium signaling; Inositol; T cell; Second messenger system; Receptor; Intracellular; Immunology; Phenotype; Genetics; Transcription factor; Immune system; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000823901,0.000178176,0.0003080295,0.000209335,0.0001457724,0.00002655685,0.000287895,0.00004861642,0.000148109],"category_scores_gemma":[0.0001196806,0.00009150764,0.00007324755,0.0005074397,0.0003334078,0.0002082747,0.00008426813,0.0004507079,0.00001134379],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000280235,"about_ca_system_score_gemma":0.00008552979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001579831,"about_ca_topic_score_gemma":0.000003960862,"domain_scores_codex":[0.9983035,0.0002315626,0.0005724143,0.0001539182,0.0004607648,0.00027779],"domain_scores_gemma":[0.9990937,0.0004658668,0.0002135922,0.0001164374,0.00002815908,0.00008221505],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002337979,0.000183698,0.000005240538,0.00001465166,0.000005724475,0.0002803216,0.01292362,0.0001021548,0.985182,0.0004631185,0.0004318747,0.0001737235],"study_design_scores_gemma":[0.001650314,0.001386647,0.00003131614,0.0005710922,0.00002566887,0.000758892,0.01133536,0.0125655,0.9710945,0.000371331,0.00008581409,0.0001235838],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861515,0.004746814,0.0002641032,0.002327052,0.004244775,0.0001969634,0.000004135919,0.00001418606,0.002050425],"genre_scores_gemma":[0.9986017,0.0004726824,0.00002700262,0.0003426965,0.0002385066,0.000001867639,5.007145e-7,0.00002192637,0.0002931448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0140876,"threshold_uncertainty_score":0.3731573,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01992333874242604,"score_gpt":0.2937669631591041,"score_spread":0.2738436244166781,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}