{"id":"W2059347852","doi":"10.14785/lpsn-2015-0005","title":"RelB deficiency causes combined immunodeficiency","year":2015,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"George & Fay Yee Centre for Healthcare Innovation; University of Manitoba; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Ontario Ministry of Research and Innovation; Hospital for Sick Children; Genome Canada; Ontario Genomics; Ontario Genomics Institute; Immunodeficiency Canada; Jeffrey Modell Foundation","keywords":"RELB; Biology; Immunodeficiency; Signal transduction; LYN; Immunology; Immune system; Primary immunodeficiency; Haploinsufficiency; CIITA; Genetics; Gene; Transcription factor; Phenotype; T cell; NFKB1; Tyrosine kinase","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0001355995,0.000915506,0.0003063836,0.000425883,0.0002606483,0.0001752504,0.0002312541,0.0004647601,0.003071408],"category_scores_gemma":[0.0003836592,0.00009005426,0.0001598197,0.000275657,0.0003226099,0.0001194594,0.0003176914,0.0003292833,0.0008159939],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001876891,"about_ca_system_score_gemma":0.0001637666,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002449905,"about_ca_topic_score_gemma":0.0001596039,"domain_scores_codex":[0.9998661,0.00002156686,0.0000153672,0.00004299775,0.00002577397,0.00002814252],"domain_scores_gemma":[0.9998685,0.00004095402,0.00003995617,0.000008044583,0.00001341047,0.00002901453],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001619805,0.0003169739,0.1533701,0.001224928,0.0002138611,0.4710323,0.0007389428,0.0003129409,0.2968043,0.001938926,0.006398327,0.06602851],"study_design_scores_gemma":[0.0001024736,0.0005118675,0.05972072,0.0001193361,0.0001552405,0.8835837,0.0001288302,0.0002261363,0.02733565,0.0005980048,0.02749701,0.00002104029],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9672189,0.01820339,0.002924414,0.0007292123,0.0001766615,0.00007419277,0.0009772994,0.0003236743,0.009372335],"genre_scores_gemma":[0.9928178,0.002969247,0.001211242,0.0002742436,0.0001324943,0.00002627435,0.0006729647,0.00002276281,0.001873063],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003071408,"threshold_uncertainty_score":0.01027483,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02556741745147416,"score_gpt":0.2505067470077992,"score_spread":0.224939329556325,"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."}}