{"id":"W4410539739","doi":"10.1016/j.jaci.2025.04.033","title":"IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency","year":2025,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Kohler Foundation; Universität Zürich; Bundesministerium für Bildung und Forschung; Eva Luise und Horst Köhler Stiftung; Else Kröner-Fresenius-Stiftung; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Exome sequencing; Immunodeficiency; Primary immunodeficiency; Biology; Immunophenotyping; Phenotype; B cell; Immunology; Missense mutation; Signal transduction; Genetics; Immune system; Gene; Flow cytometry; Antibody","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001553101,0.0001835271,0.0006094187,0.00008322391,0.00009252459,0.0000206128,0.0003492094,0.0004705731,0.00001692722],"category_scores_gemma":[0.0003692267,0.0001401235,0.0002704948,0.0001292175,0.0008190437,0.00001570749,0.0001735512,0.0005422683,9.622421e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009510324,"about_ca_system_score_gemma":0.00037582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005926122,"about_ca_topic_score_gemma":0.00003007852,"domain_scores_codex":[0.9972448,0.0005916804,0.001460742,0.0003316147,0.0001353688,0.000235834],"domain_scores_gemma":[0.9981359,0.0001468898,0.0008272001,0.0003819554,0.0004219823,0.00008608951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.06031451,0.01059549,0.3198819,0.0001467946,0.01849719,0.0001976471,0.0002489725,0.0003630934,0.4257456,0.003317612,0.001237144,0.1594541],"study_design_scores_gemma":[0.02461665,0.09082393,0.7606703,0.0007593933,0.0009743758,0.0006081215,0.001235261,0.000383406,0.08226869,0.002014547,0.03457695,0.001068374],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892361,0.005435396,0.003794155,0.0003966993,0.0008316663,0.00009304208,0.000002861087,0.00000758021,0.0002025479],"genre_scores_gemma":[0.9964333,0.001379958,0.00154141,0.0003766815,0.0001571996,0.000002473813,0.00001216852,0.00001438863,0.0000823851],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4407884,"threshold_uncertainty_score":0.5714069,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03986392764185274,"score_gpt":0.3556463163557224,"score_spread":0.3157823887138696,"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."}}