{"id":"W4311826195","doi":"10.1084/jem.20220275","title":"Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency","year":2022,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"Immune Cell Function and Interaction","field":"Immunology and Microbiology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institutes of Health; Université de Paris; Institut National Du Cancer; Société Française de Dermatologie et de Pathologie Sexuellement Transmissible; Agence Nationale de Recherches sur le Sida et les Hépatites Virales; Fonds de Recherche du Québec - Santé; Institut National de la Santé et de la Recherche Médicale; Deutsche Forschungsgemeinschaft; Meyer Foundation; Rockefeller University; National Institute of Allergy and Infectious Diseases; Fisher Center for Alzheimer's Research Foundation; Agence Nationale de la Recherche; Wellcome Trust; Fondation pour la Recherche Médicale; JPB Foundation; Deutsches Zentrum für Infektionsforschung; Fulbright Association; Care-for-Rare Foundation; Else Kröner-Fresenius-Stiftung; National Center for Advancing Translational Sciences; Medical Research Council; Leona M. and Harry B. Helmsley Charitable Trust; George Mason University; Mercatus Center, George Mason University; Styrelsen för Internationellt Utvecklingssamarbete; Yale University; Fast Grants; Bundesministerium für Bildung und Forschung; St. Giles Foundation; Howard Hughes Medical Institute","keywords":"Immunology; Phenotype; CD28; CD8; Biology; Allele; NFAT; Immune system; Inflammation; Genetics; Gene; Transcription factor","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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001128458,0.0001399481,0.0003143515,0.0001077002,0.0007247957,0.000006534638,0.000295158,0.00007057512,0.003868392],"category_scores_gemma":[0.00009075425,0.00008087321,0.00009552525,0.0001196764,0.0007214717,0.00008349421,0.0001921504,0.000841143,0.00002586037],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008797796,"about_ca_system_score_gemma":0.00003422557,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009683424,"about_ca_topic_score_gemma":0.000001705476,"domain_scores_codex":[0.9982389,0.0006540728,0.0006575464,0.0001283757,0.0001156729,0.0002054444],"domain_scores_gemma":[0.9991461,0.0002062631,0.0003925289,0.0001713658,0.00005843993,0.0000252972],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"qualitative","study_design_scores_codex":[0.001043405,0.0007067529,0.001146585,0.000003732723,0.0001243322,0.0000121337,0.004560596,0.000006315522,0.9776944,0.001347228,0.01149991,0.001854637],"study_design_scores_gemma":[0.0250626,0.07504879,0.09189947,0.0002363466,0.001040516,0.01928613,0.4692501,0.00002916353,0.1462638,0.001042247,0.1697648,0.001076039],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9310081,0.06077421,0.00004220154,0.001018067,0.004007002,0.0001143541,6.567628e-7,0.00001560804,0.003019799],"genre_scores_gemma":[0.9970476,0.0003560098,0.000008008583,0.0005877426,0.00009717962,0.000003491836,0.00000589018,0.000009739982,0.001884332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8314306,"threshold_uncertainty_score":0.9970422,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0413117253339372,"score_gpt":0.3339170445816975,"score_spread":0.2926053192477603,"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."}}