{"id":"W4318539439","doi":"10.1093/ecco-jcc/jjac190.0074","title":"DOP34 Human MD2 deficiency - an inborn error of immunity predisposing to early onset Inflammatory Bowel Disease","year":2023,"lang":"en","type":"article","venue":"Journal of Crohn s and Colitis","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation","funders":"","keywords":"TLR4; Innate immune system; Biology; Immunology; Exome sequencing; Induced pluripotent stem cell; Toll-like receptor; Lipopolysaccharide; Immune system; Mutation; Genetics; Gene; Embryonic stem cell","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":[0.0001497591,0.001411755,0.0004873017,0.0010841,0.000519652,0.0003841906,0.0003501053,0.001085883,0.004072881],"category_scores_gemma":[0.0006896559,0.0001889431,0.0004273352,0.0004853994,0.0005231964,0.0001734877,0.0006638514,0.000569991,0.000690813],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000320055,"about_ca_system_score_gemma":0.000214313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008293509,"about_ca_topic_score_gemma":0.0006520396,"domain_scores_codex":[0.9997748,0.00003055014,0.00003433089,0.0000913603,0.00004139852,0.00002771657],"domain_scores_gemma":[0.999702,0.0000937346,0.00008848307,0.00001487373,0.00002437451,0.00007650527],"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":[0.001489087,0.0002005613,0.03607898,0.0003929721,0.0001780185,0.5364625,0.0006877401,0.0009175094,0.405649,0.001462536,0.001425938,0.01505517],"study_design_scores_gemma":[0.0001809117,0.0008477613,0.1559653,0.0003382162,0.0004329813,0.6986912,0.0005063624,0.003066749,0.1153695,0.001483195,0.02300122,0.0001166807],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873324,0.001497445,0.005171729,0.000564718,0.0001751112,0.00009593492,0.002246183,0.0001899452,0.002726503],"genre_scores_gemma":[0.9941422,0.0004540132,0.002544228,0.0002017786,0.0000555221,0.00002523849,0.0008200659,0.00004384355,0.001713107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004072881,"threshold_uncertainty_score":0.01362514,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01281441875451456,"score_gpt":0.2621363509859126,"score_spread":0.2493219322313981,"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."}}