{"id":"W4392282847","doi":"10.1126/science.adh4059","title":"The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants","year":2024,"lang":"en","type":"article","venue":"Science","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill Genome Centre","funders":"NHLBI Division of Intramural Research; National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Vlaamse regering; Science for Life Laboratory; Howard Hughes Medical Institute; Vetenskapsrådet; Kuwait Foundation for the Advancement of Sciences; Fonds Wetenschappelijk Onderzoek; Qatar National Research Fund; KU Leuven; Fondation pour la Recherche Médicale; Institut National Du Cancer; CSL Behring; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; Institut National de la Santé et de la Recherche Médicale; Sidra Medicine; Institut des maladies génétiques Imagine; King Abdullah University of Science and Technology; National Center for Research Resources; National Institute of Allergy and Infectious Diseases; Agence Nationale de la Recherche; King Abdulaziz City for Science and Technology; Fonds National de la Recherche Luxembourg; Brigham and Women's Hospital; Göran Gustafssons Stiftelser; St. Giles Foundation","keywords":"T-cell receptor; Biology; Immunology; Medicine; Evolutionary biology; Computational biology; Immune system; T cell","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":[0.001116318,0.0001509911,0.0002064709,0.0001291537,0.001158201,0.000120691,0.001316052,0.0001019245,0.000220451],"category_scores_gemma":[0.0001642508,0.00009302711,0.00008193759,0.0008379851,0.001447573,0.0001728923,0.0003503761,0.0002891,0.0003885292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002431161,"about_ca_system_score_gemma":0.0001641053,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001601224,"about_ca_topic_score_gemma":0.000009055139,"domain_scores_codex":[0.9984559,0.0001197896,0.0003437459,0.0004497434,0.0001202994,0.0005105658],"domain_scores_gemma":[0.9990709,0.000238444,0.00006116428,0.0005567261,0.00006182901,0.00001092701],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00003335375,0.00007583742,0.0005955753,0.000006533487,0.00001006288,0.000004852038,0.002331595,0.00001896245,0.9657457,0.00657388,0.0001698253,0.02443383],"study_design_scores_gemma":[0.0008395237,0.001142052,0.6714643,0.0003452343,0.0000704972,0.00007967585,0.005222978,0.0001974092,0.2567134,0.01114587,0.05204515,0.0007339264],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9413132,0.05231626,0.0001165981,0.0003331366,0.001434353,0.0001958167,0.00003962151,0.00009869709,0.004152322],"genre_scores_gemma":[0.9989399,0.00006123826,0.00002042719,0.00008245425,0.00000390244,0.00001698628,0.00001793563,0.000007582144,0.0008495799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7090322,"threshold_uncertainty_score":0.8908067,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009434987994345997,"score_gpt":0.2683524640173306,"score_spread":0.2589174760229846,"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."}}