{"id":"W3134000823","doi":"10.14785/lymphosign-2021-0013","title":"A novel splice site variant in <i>FOXN1</i> in a patient with abnormal newborn screening for severe combined immunodeficiency and congenital lymphopenia","year":2021,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"FOXO transcription factor regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Severe combined immunodeficiency; Missense mutation; Immunodeficiency; Asymptomatic; Haploinsufficiency; Mutation; Compound heterozygosity; Primary immunodeficiency; Splice site mutation; Medicine; CD8; Phenotype; Immunology; Biology; Genetics; Immune system; Gene; Internal medicine; Alternative splicing; Exon","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":[0.0003206478,0.001586611,0.0008725983,0.001775293,0.001439103,0.000669274,0.0009435994,0.002910734,0.001839469],"category_scores_gemma":[0.001804028,0.0006049601,0.0007816662,0.0008056217,0.001305626,0.0007522557,0.0008395211,0.001598599,0.0003946281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007714943,"about_ca_system_score_gemma":0.0006651072,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002239912,"about_ca_topic_score_gemma":0.002119211,"domain_scores_codex":[0.9995084,0.00004170187,0.00005118833,0.0001709522,0.00007381362,0.0001539315],"domain_scores_gemma":[0.9988876,0.0003294944,0.0002511013,0.00004813051,0.00006249924,0.0004211955],"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":[0.00003982861,0.00002432843,0.00698778,0.00001450469,0.000006027063,0.9897609,0.0001493303,0.00004936028,0.002038343,0.0001173579,0.0001478988,0.0006641845],"study_design_scores_gemma":[0.0000081277,0.0001024839,0.006977893,0.000008679015,0.00001067447,0.9917086,0.00005448862,0.0001865962,0.0006435277,0.00007619632,0.0002144543,0.000008345222],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930983,0.0007528017,0.001283513,0.001000631,0.000121266,0.00005786672,0.000177339,0.0001074611,0.003400798],"genre_scores_gemma":[0.9977672,0.0001905906,0.0007521631,0.0004322874,0.0001203957,0.00001333121,0.00007030143,0.00002444776,0.000629384],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002910734,"threshold_uncertainty_score":0.006153584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008706387432417792,"score_gpt":0.207995465753628,"score_spread":0.1992890783212102,"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."}}