{"id":"W3084067040","doi":"10.1155/2020/9860863","title":"IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom","year":2020,"lang":"en","type":"article","venue":"Case Reports in Immunology","topic":"Immune Cell Function and Interaction","field":"Immunology and Microbiology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Immune dysregulation; FOXP3; Immunology; Medicine; Enteropathy; Autoimmunity; Diarrhea; Immune system; Missense mutation; Mutation; Gene; Internal medicine; Biology; Genetics; 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":[0.0002947781,0.001740274,0.0009856048,0.001611416,0.0008674201,0.0007435105,0.0006439716,0.002535923,0.001379975],"category_scores_gemma":[0.002314675,0.0007594741,0.000580134,0.0006336174,0.001066486,0.0008663648,0.001073686,0.002086171,0.0003198774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005324005,"about_ca_system_score_gemma":0.0004051221,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001337414,"about_ca_topic_score_gemma":0.001242419,"domain_scores_codex":[0.9995277,0.00006321393,0.00005383332,0.0001135466,0.0000790925,0.000162554],"domain_scores_gemma":[0.9989803,0.0003291111,0.0002146998,0.00005068759,0.00006009916,0.0003649176],"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":[0.00003743618,0.00002187126,0.005221892,0.000021683,0.000004824143,0.9919097,0.0001324627,0.00004514684,0.001615885,0.00009344887,0.00009848138,0.0007972308],"study_design_scores_gemma":[0.00001027407,0.00008431092,0.006675347,0.00001631214,0.00001479548,0.9918173,0.00006266621,0.0002001662,0.0007881034,0.00007198625,0.0002494046,0.000009395276],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900619,0.001760117,0.00256313,0.0009697647,0.0001466958,0.00007195368,0.0001292513,0.0001661072,0.004131056],"genre_scores_gemma":[0.9973779,0.0007141331,0.0008366322,0.0002219348,0.0001381476,0.0000208534,0.00005111285,0.00001691984,0.0006223032],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002535923,"threshold_uncertainty_score":0.004616439,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009375873504204189,"score_gpt":0.215084965990666,"score_spread":0.2057090924864619,"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."}}