{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001264442,0.0006638027,0.0003618616,0.0006286827,0.0002978985,0.0002726325,0.0001798324,0.0003195547,0.004905227],"category_scores_gemma":[0.0004051311,0.0001084437,0.0001665038,0.0003274694,0.0003564376,0.0001438,0.0002896457,0.0002555938,0.0004966948],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001601068,"about_ca_system_score_gemma":0.0001529301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006099685,"about_ca_topic_score_gemma":0.0004311902,"domain_scores_codex":[0.9998655,0.00002027726,0.0000122256,0.00005130869,0.00002396159,0.00002662693],"domain_scores_gemma":[0.9997874,0.00005062762,0.00005929868,0.00002716114,0.00002092089,0.00005454979],"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":[0.002962155,0.0002655223,0.3057292,0.0001896199,0.0001625378,0.03243251,0.0004930674,0.0005397078,0.6322457,0.00102469,0.001114877,0.02284044],"study_design_scores_gemma":[0.0002098876,0.001227527,0.6347176,0.0000514622,0.0003139765,0.2355445,0.0007180151,0.001889416,0.1088201,0.0009349734,0.01552104,0.00005160753],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977639,0.0003280285,0.0004157032,0.00003992107,0.00000437116,0.000009186811,0.0002056852,0.00002488253,0.001208285],"genre_scores_gemma":[0.9990976,0.00008210376,0.00015828,0.0000222022,0.00000748583,0.000004009973,0.0002187499,0.000007977917,0.0004016066],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004905227,"threshold_uncertainty_score":0.01640964,"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."}}