{"id":"W2513184125","doi":"10.1016/j.jaci.2016.06.021","title":"Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study","year":2016,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":450,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NIHR Sheffield Biomedical Research Centre; NIHR Cambridge Biomedical Research Centre; Medical Research Council; Novartis Institutes for BioMedical Research; University College London Hospitals NHS Foundation Trust; King's College London; Centre National de la Recherche Scientifique; Ligue Contre le Cancer; Bundesministerium für Bildung und Forschung; CSL Behring; National Institute for Health and Care Research; University of Cambridge; Biotechnology and Biological Sciences Research Council; University College London; Wellcome Trust; Cancer Research UK; Immunodeficiency Canada; Fondation ARC pour la Recherche sur le Cancer; Grifols; Agence Nationale de la Recherche; Regeneron Pharmaceuticals; Japan Blood Products Organization; Deutsches Zentrum für Infektionsforschung; Deutsche Forschungsgemeinschaft; Directorate for Biological Sciences; GlaxoSmithKline; Pfizer; Biogen; European Commission; Sanofi; Baxalta; Genentech; British Lung Foundation","keywords":"Cohort; Medicine; Phosphoinositide 3-kinase; Internal medicine; PI3K/AKT/mTOR pathway; Signal transduction; Biology; Genetics","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005480922,0.0007443739,0.0006046241,0.001213029,0.0009584402,0.0007775801,0.0004646274,0.0006320851,0.00244901],"category_scores_gemma":[0.001709641,0.0004723803,0.000672715,0.0009153586,0.0005157745,0.0007936822,0.0009749719,0.0005663724,0.0005155376],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003455828,"about_ca_system_score_gemma":0.0004169684,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002243532,"about_ca_topic_score_gemma":0.001997113,"domain_scores_codex":[0.9992944,0.0001238184,0.00007824349,0.0003167236,0.00008983537,0.0000969722],"domain_scores_gemma":[0.9991295,0.0001487203,0.0002341202,0.0001271149,0.00009398508,0.0002665946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008055848,0.000044765,0.9967647,0.00000527134,0.0000425209,0.001545257,0.0001349643,0.00002481247,0.0005671296,0.00001809945,0.00009648579,0.0006754004],"study_design_scores_gemma":[0.00002469194,0.0002838388,0.9858953,0.00001097548,0.000060762,0.01257323,0.0005034622,0.0001604162,0.0001312004,0.00004129978,0.0003002445,0.00001448943],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993491,0.00009052505,0.0000959481,0.00001625113,0.000002623947,0.00001858656,0.000193037,0.000003867925,0.0002300365],"genre_scores_gemma":[0.9992398,0.0001013333,0.0001066071,0.00002615677,0.000009110243,0.00002254429,0.0004133453,0.000004937882,0.00007622875],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00244901,"threshold_uncertainty_score":0.008192718,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00912291260241303,"score_gpt":0.2806859536634672,"score_spread":0.2715630410610541,"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."}}