{"id":"W4409792809","doi":"10.70962/cis2025abstract.153","title":"Two Siblings with Possible Concurrent Atypical Papillon-Lefèvre Syndrome (PLS) and Activated Phosphoinositide 3-kinase Delta Syndrome 1 (APDS1)","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Cancer-related molecular mechanisms research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Kinase; Medicine; Gastroenterology; Internal medicine; Chemistry; Biochemistry","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":[0.0005199999,0.0002667221,0.0004176687,0.0002959304,0.0003445256,0.000113183,0.0004449748,0.000196793,0.00007329062],"category_scores_gemma":[0.0001182953,0.000230366,0.0001535364,0.0003581344,0.0002395307,0.00002353265,0.0003316541,0.0009188945,0.000002528593],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001127534,"about_ca_system_score_gemma":0.0004087985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000140442,"about_ca_topic_score_gemma":0.00006576737,"domain_scores_codex":[0.998243,0.0002237459,0.0004892558,0.0002849195,0.0003645438,0.0003944958],"domain_scores_gemma":[0.9985614,0.00003841472,0.0002900909,0.0004435802,0.0004532227,0.0002132505],"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":[0.0008564307,0.0002792236,0.0006055868,0.0000832205,0.0005440201,0.0005540636,0.00005634337,0.00006821706,0.9948299,0.0003593177,0.0006125216,0.001151189],"study_design_scores_gemma":[0.006163609,0.004718215,0.01760504,0.0008018903,0.0002087503,0.004594892,0.0003516549,0.0000397999,0.9628538,0.0003634986,0.001828192,0.0004706063],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948567,0.002730815,0.001571629,0.0001537286,0.0001529354,0.0002442451,0.00001710557,0.00001156971,0.0002612899],"genre_scores_gemma":[0.9986705,0.000391257,0.0002537368,0.0001566762,0.00003479549,0.000008580768,0.0000468119,0.00003296312,0.0004046538],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03197601,"threshold_uncertainty_score":0.9394054,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01017536605788679,"score_gpt":0.2960371205458601,"score_spread":0.2858617544879734,"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."}}