{"id":"W2743432286","doi":"10.1182/blood-2017-05-782177","title":"Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype","year":2017,"lang":"en","type":"article","venue":"Blood","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":82,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services","funders":"NIH Clinical Center; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Penetrance; Nonsense mutation; Phenotype; Gain of function; Severe combined immunodeficiency; Expressivity; Genetics; Nonsense; Biology; Common variable immunodeficiency; Primary immunodeficiency; Medicine; Missense mutation; Gene","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":[0.0001368542,0.0009085152,0.00028214,0.0010323,0.0004084354,0.0004202957,0.0003999694,0.001331405,0.002926474],"category_scores_gemma":[0.0006866833,0.0001764505,0.0003238892,0.0004561122,0.0006391887,0.000201703,0.0003679405,0.0005177504,0.0004899877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003670956,"about_ca_system_score_gemma":0.0002042649,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001105909,"about_ca_topic_score_gemma":0.00171503,"domain_scores_codex":[0.9998037,0.00002065459,0.00002268533,0.00004993012,0.00005453367,0.00004843668],"domain_scores_gemma":[0.9995116,0.0001656032,0.00008405804,0.0000201761,0.00003378775,0.0001847906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004040844,0.0001989895,0.03391622,0.00009204285,0.00008366159,0.8395606,0.0003049299,0.0004553934,0.1157377,0.001096157,0.001210436,0.00693979],"study_design_scores_gemma":[0.0001708335,0.0003755431,0.08837865,0.00003227905,0.0000811856,0.8954297,0.000122116,0.001056843,0.01028834,0.0005328333,0.003486524,0.00004511296],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916806,0.000642308,0.000890974,0.0002898431,0.00006635123,0.00005206403,0.0004829505,0.00007849305,0.005816543],"genre_scores_gemma":[0.9985375,0.000076744,0.000465709,0.00007399207,0.00003879521,0.000007787329,0.0001232009,0.00001037289,0.0006658408],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002926474,"threshold_uncertainty_score":0.009790003,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01331467790446874,"score_gpt":0.2239917058046078,"score_spread":0.210677027900139,"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."}}