{"id":"W4361265489","doi":"10.14785/lymphosign-2023-0004","title":"Identification of novel compound heterozygous <i>LRBA</i> mutations associated with recurrent hemophagocytic lymphohistiocytosis and CNS manifestations","year":2023,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Compound heterozygosity; Hemophagocytic lymphohistiocytosis; Medicine; Immunology; Missense mutation; Exome sequencing; Autoimmunity; Internal medicine; Biology; Mutation; Immune system; Genetics; Disease","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004426436,0.000176424,0.0002536929,0.0002781943,0.0007107146,0.00005873558,0.0001911102,0.0001148666,0.00003347265],"category_scores_gemma":[0.000139271,0.0001582325,0.00008185006,0.0005280875,0.0003443024,0.0001833904,0.00003484266,0.0001731633,0.00004863842],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000135077,"about_ca_system_score_gemma":0.000194344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003452306,"about_ca_topic_score_gemma":0.000005000519,"domain_scores_codex":[0.9986531,0.000115322,0.0005881595,0.0002124513,0.00009750817,0.0003334257],"domain_scores_gemma":[0.9988722,0.0002391889,0.0004937044,0.0001714828,0.0002069747,0.00001651772],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002515088,0.001011584,0.001481927,0.00005117715,0.0006661149,0.00004200817,0.005337562,0.001877997,0.9771931,0.001091273,0.0008239368,0.01017178],"study_design_scores_gemma":[0.06982274,0.004114415,0.6139254,0.002533172,0.002804987,0.02288547,0.02880474,0.01902773,0.221134,0.005283744,0.005809183,0.003854449],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893487,0.004312697,0.005065132,0.0001796389,0.0005924245,0.0001929015,0.0001107528,0.00008406132,0.0001136683],"genre_scores_gemma":[0.9989341,0.0002644928,0.00003630151,0.00004901248,0.000004065796,0.00002087144,0.0002370002,0.00002141759,0.0004327314],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7560591,"threshold_uncertainty_score":0.6452536,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01637298839474666,"score_gpt":0.2416614648764418,"score_spread":0.2252884764816951,"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."}}