{"id":"W2945467758","doi":"10.1093/ibd/izz103","title":"CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease","year":2019,"lang":"en","type":"article","venue":"Inflammatory Bowel Diseases","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Allergy and Infectious Diseases; National Institutes of Health; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Medicine; Primary immunodeficiency; Immunophenotyping; Exome sequencing; Inflammatory bowel disease; Immunology; Immune dysregulation; Immunodeficiency; Immune system; Disease; Peripheral blood mononuclear cell; Exome; Phenotype; Internal medicine; Biology; Gene; Genetics; Flow cytometry","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":["metaepi_narrow","insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.0003611601,0.0006695843,0.0004870775,0.0003427675,0.0008478687,0.0001451069,0.001017274,0.0003245295,0.002018487],"category_scores_gemma":[0.0004354482,0.0006683944,0.0005504781,0.0002391452,0.0006570393,0.0008160057,0.0004265154,0.0006970124,0.01138767],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009854067,"about_ca_system_score_gemma":0.0007100992,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001103756,"about_ca_topic_score_gemma":0.000003240699,"domain_scores_codex":[0.9960896,0.0004967388,0.0008961106,0.0009534992,0.0002709961,0.001293038],"domain_scores_gemma":[0.997658,0.0003199091,0.000384445,0.001354174,0.0001712229,0.0001122057],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009734104,0.0006246945,0.9772199,0.0005087417,0.0002424355,0.0002987935,0.001506598,0.0004849429,0.01304288,0.002385352,0.001545972,0.001166311],"study_design_scores_gemma":[0.001944246,0.0000916306,0.9777946,0.0001985317,0.0001892213,0.00002754829,0.001071925,0.0000454614,0.0012698,0.00102463,0.01539853,0.0009438841],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.957041,0.03444084,0.000005502694,0.00009219221,0.002108528,0.0009427895,0.0002018787,0.0005556845,0.004611554],"genre_scores_gemma":[0.993378,0.0002298584,0.000002648834,0.000350045,0.00002756406,0.0001511958,0.0003005391,0.00009176568,0.005468396],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03633695,"threshold_uncertainty_score":0.9995767,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005769889793232503,"score_gpt":0.2159042199302456,"score_spread":0.2101343301370131,"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."}}