{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001184881,0.0008383887,0.0002662714,0.000282884,0.000261869,0.0002891292,0.0003066705,0.0006282626,0.001722279],"category_scores_gemma":[0.0003776908,0.0001101504,0.000379483,0.0001905312,0.0005387982,0.0001363244,0.0002518148,0.0006203871,0.0003469168],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002556825,"about_ca_system_score_gemma":0.0001703936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001197769,"about_ca_topic_score_gemma":0.001310872,"domain_scores_codex":[0.999846,0.00002299893,0.00002463837,0.00004002544,0.00003165736,0.00003462988],"domain_scores_gemma":[0.9997718,0.00006877144,0.00005903042,0.00001791135,0.00001710479,0.00006538984],"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":[0.0004420853,0.0001117307,0.009236234,0.00005298342,0.00009867192,0.02731013,0.0002259336,0.0004682758,0.9541684,0.0007588175,0.0004525153,0.006674182],"study_design_scores_gemma":[0.0005339698,0.002220786,0.1575386,0.00008416818,0.0005953144,0.3292397,0.0005928003,0.007271635,0.4872276,0.00180966,0.01277988,0.0001059137],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950335,0.0003557725,0.002232599,0.0001237688,0.00002841828,0.00002534487,0.0003560759,0.0001230346,0.001721386],"genre_scores_gemma":[0.9985936,0.0001087963,0.0007348378,0.00007085316,0.0000112864,0.00000712831,0.0001731666,0.0000279413,0.0002722075],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001722279,"threshold_uncertainty_score":0.005761564,"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."}}