{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001740459,0.0008195458,0.0004170356,0.0006198005,0.0004558661,0.0004549011,0.0002561888,0.0008517255,0.001370145],"category_scores_gemma":[0.0007909095,0.00016446,0.0002436253,0.0004763045,0.0004699657,0.000282744,0.0004456806,0.0004954146,0.0002535876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002647599,"about_ca_system_score_gemma":0.0001963477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000527311,"about_ca_topic_score_gemma":0.0006417221,"domain_scores_codex":[0.9998061,0.00003161883,0.00001786755,0.00005209883,0.00002371674,0.00006856085],"domain_scores_gemma":[0.9995559,0.0001560222,0.0001219483,0.00002235888,0.00001995938,0.0001238567],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005491975,0.00008489722,0.2000219,0.0001804262,0.00004324266,0.7538311,0.0005324676,0.0002611599,0.03305809,0.0007900973,0.0008811689,0.009766254],"study_design_scores_gemma":[0.00002440949,0.0001550428,0.0713345,0.00004344612,0.00004030767,0.9220362,0.0002000217,0.0002846052,0.003651846,0.0002352912,0.001979032,0.0000153542],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932849,0.001578336,0.0009103622,0.00018405,0.00003070387,0.00003791762,0.0001598928,0.00005705228,0.003756777],"genre_scores_gemma":[0.9989003,0.0002926033,0.0004075759,0.00007890225,0.00002518251,0.00000564071,0.00008561835,0.000007213904,0.0001969369],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001370145,"threshold_uncertainty_score":0.004583538,"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."}}