{"id":"W1818178195","doi":"10.14785/lpsn-2014-0004","title":"A mutation in the <i>STAT1</i> DNA-binding domain associated with hemophagocytic lymphohistocytosis","year":2014,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Chronic mucocutaneous candidiasis; Hemophagocytic lymphohistiocytosis; STAT1; DNA-binding domain; Immunology; Mutation; Immune system; Biology; Transcription factor; Candida albicans; Immunodeficiency; Medicine; Gene; Genetics; Internal medicine; Disease","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":[0.0001535901,0.0007557941,0.0002514511,0.0006472961,0.0005356256,0.0003614398,0.0003385297,0.001096535,0.002454677],"category_scores_gemma":[0.0006593491,0.0001861663,0.0004291984,0.0003500594,0.0007558949,0.0002538108,0.0004198083,0.000587697,0.0004092586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002961202,"about_ca_system_score_gemma":0.0002765885,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006183844,"about_ca_topic_score_gemma":0.0004525686,"domain_scores_codex":[0.9998137,0.000022703,0.00003137857,0.00004928447,0.00002833561,0.00005458208],"domain_scores_gemma":[0.9995573,0.0001927275,0.0001132072,0.00001925359,0.00002173742,0.00009577052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004541881,0.0001815245,0.06446803,0.000148477,0.0000653313,0.8452356,0.0003850904,0.0002868265,0.0817883,0.0007482582,0.0008586869,0.005379512],"study_design_scores_gemma":[0.0000716939,0.0003347264,0.05721188,0.00003641901,0.00006268736,0.9239632,0.0001226515,0.0006581108,0.01574078,0.0002849613,0.001492115,0.00002091623],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960778,0.0004509118,0.0006472873,0.0002708482,0.0000485518,0.00003501594,0.0001454776,0.00004890572,0.002275214],"genre_scores_gemma":[0.9992658,0.000082693,0.0002002632,0.00008238349,0.00004514321,0.000003839291,0.00006119099,0.000004982657,0.0002536572],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002454677,"threshold_uncertainty_score":0.008211672,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01318924994262527,"score_gpt":0.2544324773521342,"score_spread":0.2412432274095089,"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."}}