{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003592102,0.002300869,0.0008616352,0.001644495,0.001065974,0.0006901474,0.0006027682,0.0009773285,0.002647166],"category_scores_gemma":[0.001539111,0.0003209928,0.0005130221,0.001297197,0.001405871,0.0003407951,0.0008677639,0.0009164499,0.0004956833],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005167905,"about_ca_system_score_gemma":0.0005154391,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001086289,"about_ca_topic_score_gemma":0.0007450197,"domain_scores_codex":[0.9995348,0.00003613025,0.00006084413,0.0002229295,0.00006352744,0.00008171107],"domain_scores_gemma":[0.9990609,0.0002572157,0.0003656134,0.00007718037,0.00005713502,0.0001818926],"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":[0.001498306,0.0002622171,0.1354213,0.000179927,0.0002706676,0.7591175,0.001228435,0.00087504,0.08205248,0.001157496,0.001067261,0.01686935],"study_design_scores_gemma":[0.00007037626,0.0003404808,0.07662688,0.00004197764,0.0002386955,0.9096482,0.0003131609,0.0006774932,0.009713142,0.0005194338,0.001769282,0.00004092405],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963239,0.0005823422,0.001359853,0.0001720387,0.00003197951,0.0000372103,0.000399464,0.00007152317,0.001021679],"genre_scores_gemma":[0.9979893,0.0002498715,0.0007475513,0.00008560776,0.0000575307,0.0000135469,0.0002617662,0.00003041223,0.000564383],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002647166,"threshold_uncertainty_score":0.008855641,"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."}}