{"id":"W2297114250","doi":"10.1056/nejmoa1512234","title":"Loss of B Cells in Patients with Heterozygous Mutations in IKAROS","year":2016,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":245,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario","funders":"NIH Clinical Center; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Gottfried und Julia Bangerter-Rhyner-Stiftung; Baylor-Hopkins Center for Mendelian Genomics; Gebert Rüf Stiftung; Fondazione Ettore e Valeria Rossi; Institut National de la Santé et de la Recherche Médicale; ARUP Laboratories; National Institute of Allergy and Infectious Diseases; Université Paris Descartes; Howard Hughes Medical Institute; Johns Hopkins University; National Jewish Health; National Institute of General Medical Sciences; University of Utah; European Commission; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Missense mutation; Proband; Common variable immunodeficiency; Molecular biology; Exome; Biology; Mutation; Hypogammaglobulinemia; Antibody; Genetics; Exome sequencing; 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":[0.0002211196,0.001002074,0.0004142818,0.001423042,0.0009122873,0.0004270239,0.0003453352,0.0006292735,0.001847434],"category_scores_gemma":[0.001025027,0.0002602837,0.0002329405,0.0007694102,0.0005152485,0.000268688,0.0003573803,0.0004629967,0.0003726375],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002381116,"about_ca_system_score_gemma":0.0001622516,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00062109,"about_ca_topic_score_gemma":0.0004845014,"domain_scores_codex":[0.9997925,0.00002868351,0.00002510082,0.00007229364,0.00004184489,0.00003955166],"domain_scores_gemma":[0.9996731,0.00009067184,0.000106213,0.00001813643,0.00002877389,0.00008314203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009955359,0.0001696762,0.8777205,0.00009869557,0.0001186118,0.05821189,0.0007488169,0.0002603719,0.04870322,0.0001795262,0.0007891799,0.01200398],"study_design_scores_gemma":[0.000113437,0.0009343215,0.6639947,0.00004912396,0.000224873,0.3213337,0.0004840722,0.0004838804,0.01024756,0.0002956844,0.0018118,0.00002677329],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988148,0.0003235481,0.0002187604,0.00003923354,0.00000521069,0.000009288288,0.00009971481,0.00002343535,0.0004659718],"genre_scores_gemma":[0.9994619,0.0001059399,0.0001943796,0.00002817227,0.00001053827,0.000005582115,0.0001099889,0.000005061411,0.00007838583],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001847434,"threshold_uncertainty_score":0.006180346,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00504392318020991,"score_gpt":0.2074295292388844,"score_spread":0.2023856060586745,"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."}}