{"id":"W2110734772","doi":"10.3324/haematol.2010.029389","title":"Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases","year":2010,"lang":"en","type":"article","venue":"Haematologica","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":130,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"Bundesministerium für Bildung und Forschung; European Commission","keywords":"Hemophagocytic lymphohistiocytosis; Immunology; CD8; Cytotoxic T cell; Natural killer cell; Degranulation; Biology; Medicine; Disease; Immune system; Pathology; Internal medicine; Genetics; In vitro","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":[0.0001932891,0.0005406064,0.0002875611,0.0005490397,0.0003823267,0.0002777663,0.0001752146,0.0004271022,0.002064227],"category_scores_gemma":[0.0009107657,0.0001729575,0.0002298071,0.0004950447,0.0003991981,0.000192338,0.0003476549,0.0001924421,0.0001964696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002206872,"about_ca_system_score_gemma":0.0001342927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004905845,"about_ca_topic_score_gemma":0.0007659639,"domain_scores_codex":[0.9997585,0.00003676089,0.00004000889,0.00007589674,0.0000346515,0.00005405166],"domain_scores_gemma":[0.9994123,0.000160521,0.0002236685,0.00003541516,0.00003717024,0.0001309732],"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":[0.0006162472,0.00007094038,0.8739309,0.0001143912,0.0001035606,0.08759597,0.0003653403,0.0002657041,0.02981754,0.0001624311,0.0003164339,0.006640502],"study_design_scores_gemma":[0.00005545685,0.0001850393,0.6403447,0.00002854928,0.00007966664,0.3535078,0.0001804719,0.0004549164,0.00412983,0.0001835875,0.0008409352,0.000009071422],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992556,0.0001367409,0.0001884399,0.000008701521,0.000002151934,0.000004844705,0.00003209068,0.000005864851,0.0003655888],"genre_scores_gemma":[0.9997249,0.00003203941,0.0001234582,0.000008096485,0.000005693791,0.000002594338,0.00006200273,0.000001550172,0.00003958574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002064227,"threshold_uncertainty_score":0.006905556,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01098137334185702,"score_gpt":0.2641260837821603,"score_spread":0.2531447104403033,"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."}}