{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007323947,0.0002055538,0.0001759442,0.0000827144,0.000217809,0.0001063822,0.0004616183,0.0001468959,0.00003249829],"category_scores_gemma":[0.0002556962,0.0001815654,0.0001303575,0.0001668715,0.0001067986,0.000009867497,0.0001130544,0.000154818,0.00008239022],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008459528,"about_ca_system_score_gemma":0.0006004821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000192577,"about_ca_topic_score_gemma":0.00000268915,"domain_scores_codex":[0.9984321,0.0001019668,0.0003620711,0.0002870117,0.0003688179,0.0004480251],"domain_scores_gemma":[0.9988666,0.00001273793,0.0001873241,0.0003852196,0.0002786646,0.0002694763],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000215103,0.0002162643,0.00388453,0.000006951336,0.00003724997,0.00006766808,0.0003410117,0.0003707469,0.9720129,0.0005891345,0.02091409,0.001344399],"study_design_scores_gemma":[0.007518445,0.004183503,0.00205802,0.0001012523,0.0001018779,0.005342511,0.001083334,0.0002832595,0.9173774,0.005572787,0.05512714,0.001250531],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9722045,0.006842303,0.01485037,0.0001691513,0.001058706,0.0001164128,0.000007896392,0.00003671075,0.004713933],"genre_scores_gemma":[0.9970488,0.0001624202,0.001557816,0.0003878476,0.0003345668,0.000006021652,0.00001722138,0.00003744986,0.0004478401],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05463551,"threshold_uncertainty_score":0.7404022,"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."}}