{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003464153,0.00008748006,0.0003110086,0.0002482695,0.00001783752,9.297581e-7,0.0001321338,0.00006094497,0.0001784904],"category_scores_gemma":[0.0001038495,0.00004395357,0.00002661754,0.0001489463,0.0002139817,0.00007987759,0.00001036321,0.000180057,0.000006850065],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002200515,"about_ca_system_score_gemma":0.00006710403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001266711,"about_ca_topic_score_gemma":0.00003103062,"domain_scores_codex":[0.9991112,0.0001058474,0.000488186,0.00007146843,0.00006282512,0.0001604443],"domain_scores_gemma":[0.9993729,0.0001739874,0.0002679797,0.00009351467,0.00008313085,0.000008477695],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004477982,0.000932497,0.4633119,0.00003531795,0.0001469449,0.00007718083,0.009215835,0.0002026567,0.2231644,0.0001667407,0.0003313104,0.2979372],"study_design_scores_gemma":[0.2063527,0.003982327,0.758727,0.001549934,0.00005913243,0.0001223968,0.000658261,7.52658e-7,0.01796635,0.0005522421,0.009838361,0.0001905748],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960946,0.002485493,0.000170922,0.0006356,0.0003878805,0.00007580558,0.000003740642,0.000002195463,0.000143774],"genre_scores_gemma":[0.9996243,0.00009582852,0.00001381283,0.00004732961,0.00001171144,5.280847e-7,0.000004164052,0.000005560182,0.0001967576],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2977467,"threshold_uncertainty_score":0.1954345,"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."}}