{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004181437,0.001295274,0.0008778981,0.0007384436,0.001019246,0.001036126,0.0008755015,0.007476595,0.003300364],"category_scores_gemma":[0.002897789,0.0004613817,0.0007188894,0.0005160504,0.001452882,0.000853179,0.0006475633,0.004940359,0.0008888346],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001312559,"about_ca_system_score_gemma":0.0004873273,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009810308,"about_ca_topic_score_gemma":0.001485886,"domain_scores_codex":[0.9995946,0.00008137526,0.00003335719,0.00006562481,0.00008870793,0.0001363511],"domain_scores_gemma":[0.9991496,0.0004482572,0.0001203869,0.00007220926,0.00005045063,0.0001590803],"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":[0.0002170866,0.00003477247,0.003844682,0.00005312053,0.00002806598,0.9780346,0.00005243315,0.0001145413,0.002390777,0.001851466,0.009819134,0.003559317],"study_design_scores_gemma":[0.0001512139,0.00009330473,0.008108946,0.00007885526,0.0001162397,0.9686017,0.00009588447,0.001305742,0.002077624,0.003270429,0.01607085,0.0000291211],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4993869,0.02068351,0.00562172,0.3125816,0.01556732,0.0002780836,0.001025142,0.0009448325,0.1439108],"genre_scores_gemma":[0.9372393,0.003719145,0.001682151,0.02927081,0.0165396,0.00006284272,0.0001716959,0.00006191996,0.01125238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007476595,"threshold_uncertainty_score":0.01104081,"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."}}