{"id":"W4310102582","doi":"10.14785/lymphosign-2022-0014","title":"Whole exome sequencing identifies causative compound heterozygous variants in <i>PRF1</i> in late-onset familial hemophagocytic lymphohistiocytosis","year":2022,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Hemophagocytic lymphohistiocytosis; Exome sequencing; Compound heterozygosity; Missense mutation; Cytopenia; Exome; Immunology; Medicine; Immune dysregulation; Pancytopenia; Hepatosplenomegaly; Perforin; Disease; Biology; Immune system; Mutation; Genetics; Gene; Internal medicine; CD8; Bone marrow","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":[0.0002884645,0.0006320721,0.0004427322,0.0008882458,0.0004030128,0.0006286417,0.000438268,0.001242256,0.001535264],"category_scores_gemma":[0.001100213,0.0001840911,0.0003710503,0.000633762,0.0003116897,0.0002322796,0.0004172048,0.0005061057,0.0004333941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003225244,"about_ca_system_score_gemma":0.0001597119,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001297996,"about_ca_topic_score_gemma":0.002101859,"domain_scores_codex":[0.9997028,0.0000298201,0.00004042096,0.0001092175,0.00007142644,0.00004633751],"domain_scores_gemma":[0.9995105,0.0002028388,0.0001442861,0.00002738431,0.00005217998,0.00006278459],"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":[0.001051431,0.0001902615,0.2217157,0.0003570782,0.0002365399,0.5980911,0.001470451,0.001462553,0.1392826,0.0007321338,0.004547711,0.03086251],"study_design_scores_gemma":[0.0001019245,0.0004446094,0.41236,0.0002419841,0.0003557651,0.5372404,0.0007151839,0.003804625,0.03227008,0.000778496,0.01160287,0.00008394333],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933983,0.001022171,0.001547527,0.0002470035,0.00002897882,0.00004880217,0.002340542,0.00005267663,0.00131401],"genre_scores_gemma":[0.9970295,0.0002835219,0.0009979269,0.0001985498,0.0000219281,0.00001304918,0.001108066,0.00002456854,0.0003229876],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001535264,"threshold_uncertainty_score":0.005135953,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02801717144901453,"score_gpt":0.2812874557421663,"score_spread":0.2532702842931517,"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."}}