{"id":"W3021771747","doi":"10.14785/lymphosign-2020-0003","title":"Novel heterozygous PIK3CD mutation presenting with only laboratory markers of combined immunodeficiency","year":2020,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Immunodeficiency; Mutation; Severe combined immunodeficiency; Medicine; Asymptomatic; Immunology; Compound heterozygosity; Primary immunodeficiency; Cancer research; Biology; Internal medicine; Immune system; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003651366,0.0002433351,0.0003725594,0.0001194622,0.0004217857,0.00004795265,0.000438731,0.0001485742,0.0002317906],"category_scores_gemma":[0.0001138449,0.0002021097,0.0001341989,0.000439432,0.0003118251,0.0002801773,0.00006314547,0.0003965688,0.0000567242],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004700939,"about_ca_system_score_gemma":0.0004103388,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005257273,"about_ca_topic_score_gemma":6.050137e-7,"domain_scores_codex":[0.9983836,0.0001544692,0.0006124581,0.0002582962,0.0001250895,0.00046602],"domain_scores_gemma":[0.9988939,0.00009281162,0.0005434563,0.0002073629,0.0002412058,0.00002130889],"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":[0.001763659,0.0004636162,0.002070472,0.00006157733,0.0003527985,0.00003925097,0.004072023,0.0006925053,0.9841454,0.0003602659,0.0003629888,0.005615416],"study_design_scores_gemma":[0.06984922,0.01515653,0.1267336,0.001104489,0.001035137,0.01112759,0.03286835,0.002655169,0.7119312,0.0005422119,0.02315715,0.003839325],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9695978,0.01253174,0.01555244,0.000438129,0.0005303544,0.0002345708,0.00002762197,0.00007199314,0.001015408],"genre_scores_gemma":[0.9991497,0.00006909695,0.0002750414,0.0003379144,0.000007990456,0.000004871838,0.00002844846,0.00003031669,0.00009665692],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2722142,"threshold_uncertainty_score":0.8241794,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008796396122974053,"score_gpt":0.2042856762881345,"score_spread":0.1954892801651604,"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."}}