{"id":"W4404243398","doi":"10.1084/jem.20240546","title":"Human <i>ITGAV</i> variants are associated with immune dysregulation, brain abnormalities, and colitis","year":2024,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; University of Toronto; SickKids Foundation; Alberta Children's Hospital; University of Calgary; Hospital for Sick Children","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; Fondation Princesse Grace de Monaco; Genome Alberta; Hospital for Sick Children; Narodowe Centrum Nauki; Fondation pour la Recherche Médicale; Ontario Genomics Institute; Canada Foundation for Innovation; Genome British Columbia; Agence Nationale de la Recherche; Government of Ontario; Institut National de la Santé et de la Recherche Médicale; Ontario Research Foundation; Canadian Institute for Advanced Research; Leona M. and Harry B. Helmsley Charitable Trust; National Institutes of Health; Canada Research Chairs; Ontario Genomics; Genome Canada","keywords":"Immune dysregulation; Immune system; Colitis; Medicine; Immunology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001268359,0.001427425,0.000338491,0.0008902691,0.0005131471,0.0004367745,0.000289189,0.0009392201,0.002407165],"category_scores_gemma":[0.000427859,0.0001929293,0.0004130992,0.0006337974,0.0006914762,0.000144411,0.0004363414,0.0005607167,0.0003406529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002182312,"about_ca_system_score_gemma":0.0001775876,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001467965,"about_ca_topic_score_gemma":0.001839524,"domain_scores_codex":[0.9997295,0.00003490974,0.00003455819,0.00009829673,0.00005327599,0.00004951795],"domain_scores_gemma":[0.9996883,0.0000435917,0.0001630211,0.00002237385,0.0000186029,0.0000641478],"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":[0.001190022,0.0001270611,0.1085035,0.0001239026,0.0002960929,0.1193152,0.000485915,0.0005996039,0.7554646,0.001563919,0.001268519,0.0110617],"study_design_scores_gemma":[0.0001316129,0.0007418315,0.4480407,0.0001225754,0.0003802151,0.4674615,0.0005901795,0.001673779,0.07113189,0.001384367,0.008262304,0.00007892185],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957034,0.0003905482,0.001335597,0.0001420718,0.000028547,0.00002660982,0.000549712,0.00008288772,0.001740555],"genre_scores_gemma":[0.9980903,0.000167038,0.0008076913,0.00007500336,0.00002136591,0.000008440533,0.0003377334,0.00003532688,0.0004570121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002407165,"threshold_uncertainty_score":0.008052766,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01011819740441071,"score_gpt":0.2517883840418149,"score_spread":0.2416701866374042,"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."}}