{"id":"W3156027862","doi":"10.1186/s12969-021-00536-y","title":"Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report","year":2021,"lang":"en","type":"article","venue":"Pediatric Rheumatology","topic":"Neutrophil, Myeloperoxidase and Oxidative Mechanisms","field":"Immunology and Microbiology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; National Institute of Allergy and Infectious Diseases; NIH Clinical Center; National Institutes of Health; National Human Genome Research Institute; Deutsche Forschungsgemeinschaft","keywords":"Immunology; Medicine; Primary immunodeficiency; Autoimmunity; Chronic granulomatous disease; Compound heterozygosity; Allele; Antibody; Immune system; Biology; Gene; Genetics","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":[0.0004683078,0.002039721,0.001256513,0.002391485,0.002360628,0.0015274,0.001211932,0.004283646,0.001906248],"category_scores_gemma":[0.002238886,0.001187109,0.00123858,0.001304478,0.001628691,0.001293366,0.00132797,0.00226465,0.0006231882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001167926,"about_ca_system_score_gemma":0.0005957218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003137984,"about_ca_topic_score_gemma":0.00289668,"domain_scores_codex":[0.9992123,0.00007926097,0.00008715166,0.0002192583,0.0001128803,0.0002890723],"domain_scores_gemma":[0.998243,0.0005195892,0.000376615,0.0001538538,0.0001039726,0.0006029129],"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":[0.00002785284,0.0000382252,0.005813729,0.00001693185,0.000008996347,0.992226,0.0001678073,0.00002784612,0.0008009385,0.00006740989,0.000150138,0.0006541422],"study_design_scores_gemma":[0.000007587606,0.00004333221,0.004165514,0.00000711234,0.0000120864,0.9951315,0.00007270579,0.0001081493,0.0002381995,0.00004440806,0.0001616897,0.00000772961],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991759,0.001779777,0.001776605,0.001078968,0.0001193878,0.00009498002,0.0001522982,0.0001136691,0.003125287],"genre_scores_gemma":[0.9977951,0.0005272624,0.0006752046,0.0002358432,0.0002294411,0.00001409123,0.00006180384,0.00001439578,0.0004469003],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004283646,"threshold_uncertainty_score":0.008473933,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01041764625233911,"score_gpt":0.2200589207388917,"score_spread":0.2096412744865525,"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."}}