{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001360013,0.00154944,0.0006977983,0.001770674,0.001008209,0.0006323396,0.0006098069,0.001586564,0.003727633],"category_scores_gemma":[0.001507793,0.0003625273,0.0004743575,0.0009415792,0.0006660371,0.0007282586,0.0007107327,0.000834543,0.0005447418],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004449808,"about_ca_system_score_gemma":0.0005529454,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001744772,"about_ca_topic_score_gemma":0.001243147,"domain_scores_codex":[0.9996442,0.00001977183,0.00004338404,0.0001629867,0.00005193608,0.00007768762],"domain_scores_gemma":[0.9995481,0.0001419141,0.0000857234,0.00002740428,0.00004041656,0.0001564864],"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":[0.0001038903,0.00006134879,0.04054297,0.00003343508,0.00002182424,0.9516689,0.0002704902,0.00008895756,0.004344866,0.0002012211,0.0005399705,0.002122151],"study_design_scores_gemma":[0.00001068761,0.00007094078,0.01503299,0.00001247461,0.00001624592,0.9832478,0.00006622235,0.0001315307,0.0006142656,0.00009606685,0.000690235,0.00001047234],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903594,0.000990884,0.001605582,0.0006681914,0.0001049587,0.00009244642,0.0008844869,0.0001326188,0.005161322],"genre_scores_gemma":[0.997709,0.0002444036,0.0005934733,0.0001771002,0.0001009078,0.0000144633,0.0003247191,0.00001570532,0.0008201929],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003727633,"threshold_uncertainty_score":0.01247019,"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."}}