{"id":"W2069236772","doi":"10.1016/j.jaci.2013.10.045","title":"Combined immunodeficiency associated with homozygous MALT1 mutations","year":2013,"lang":"en","type":"letter","venue":"Journal of Allergy and Clinical Immunology","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":120,"is_retracted":false,"has_abstract":false,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research; Ludwig-Maximilians-Universität München; Rare Disease Foundation; Deutsche Forschungsgemeinschaft; Michael Smith Health Research BC; Canadian Association of Gastroenterology","keywords":"Immunodeficiency; Human immunodeficiency virus (HIV); Mutation; Virology; Genetics; Biology; Medicine; Gene; Immune system","routes":{"ca_aff":true,"ca_fund":true,"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","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0005451504,0.0003415378,0.0007852648,0.0001266016,0.000135594,0.00004899027,0.0005256583,0.001820887,0.0001095084],"category_scores_gemma":[0.0006455372,0.0002644219,0.0003459867,0.00009916417,0.0007047259,0.000009760289,0.0001524756,0.002296355,0.00001847896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002636719,"about_ca_system_score_gemma":0.0003774863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001677112,"about_ca_topic_score_gemma":0.00001852848,"domain_scores_codex":[0.9972243,0.0005116538,0.001237957,0.0003764073,0.0002321459,0.0004175248],"domain_scores_gemma":[0.9970621,0.0003309617,0.001481001,0.0004115056,0.0006431078,0.00007131779],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002055132,0.001989387,0.00181712,0.00005223343,0.03066402,0.003239493,0.0001702381,0.0000905778,0.03530758,0.0001954163,0.9181854,0.006233381],"study_design_scores_gemma":[0.01253618,0.0334492,0.02193392,0.0006316956,0.001157917,0.003257925,0.0002205525,0.00004244563,0.002122381,0.001547011,0.9213083,0.001792531],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9138494,0.007801741,0.0004590804,0.07489522,0.001819331,0.0002749147,0.00004043876,0.00002212463,0.0008378143],"genre_scores_gemma":[0.611848,0.02131471,0.002281954,0.337221,0.006960905,0.0000580055,0.002201803,0.0004457043,0.01766788],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3020013,"threshold_uncertainty_score":0.9999808,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01801857316764016,"score_gpt":0.2700873592208864,"score_spread":0.2520687860532462,"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."}}