{"id":"W2178197433","doi":"10.1007/s10875-015-0214-9","title":"The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1","year":2015,"lang":"en","type":"article","venue":"Journal of Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":138,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft; E-Rare; European Commission; Deutsches Zentrum für Infektionsforschung","keywords":"Chronic mucocutaneous candidiasis; Medical microbiology; Phenotype; Medicine; Mucocutaneous zone; Immunology; Function (biology); Gain of function; Biology; Internal medicine; Genetics; Gene; Disease","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001855609,0.000760196,0.0004440941,0.0007410213,0.0006510349,0.0003781812,0.000189585,0.0003728329,0.002026958],"category_scores_gemma":[0.001203384,0.0002502683,0.0002670054,0.0005090532,0.0004072232,0.0002044478,0.0004087622,0.0002456907,0.0002757722],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002486927,"about_ca_system_score_gemma":0.0001948222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00115652,"about_ca_topic_score_gemma":0.0009594818,"domain_scores_codex":[0.9997491,0.0000332325,0.00003155714,0.00008583644,0.00003915738,0.0000610533],"domain_scores_gemma":[0.999532,0.0001186901,0.0001527519,0.00003047911,0.00003738363,0.0001287463],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0005794183,0.00009085296,0.9473379,0.00003756022,0.00006049497,0.0349098,0.0004733356,0.0001449787,0.01017348,0.00005836991,0.0002949529,0.005838848],"study_design_scores_gemma":[0.00006132326,0.0004821236,0.8519433,0.00002185131,0.00007009971,0.1442867,0.0003307997,0.0002667434,0.001526883,0.00006895752,0.0009234443,0.00001788684],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994444,0.00011886,0.00008564963,0.00001504112,0.000002807144,0.000006192285,0.00008515216,0.000003413449,0.0002384397],"genre_scores_gemma":[0.9995703,0.00006412812,0.00007541224,0.00001971124,0.000008078358,0.000005886498,0.0001382247,0.000002175407,0.0001160586],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002026958,"threshold_uncertainty_score":0.006780803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02904976688612828,"score_gpt":0.3291581814939771,"score_spread":0.3001084146078489,"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."}}