{"id":"W4365444043","doi":"10.1007/s10875-023-01487-7","title":"A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature","year":2023,"lang":"en","type":"review","venue":"Journal of Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Wiskott–Aldrich syndrome; Mutation; Medical microbiology; Presentation (obstetrics); Primary immunodeficiency; Medicine; Wiskott–Aldrich syndrome protein; Genetic disorder; Immunology; Gene; Immune system; Genetics; Biology; Surgery","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":["research_integrity"],"category_scores_codex":[0.006601097,0.0005142248,0.005533942,0.00105495,0.0001012307,0.0000276169,0.0006484719,0.001697255,0.00003599498],"category_scores_gemma":[0.006503477,0.000403196,0.0009990092,0.001338081,0.0003603866,0.0002616344,0.0002426015,0.003576698,0.00006817414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006853049,"about_ca_system_score_gemma":0.0007977291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005797082,"about_ca_topic_score_gemma":0.00002011672,"domain_scores_codex":[0.9903879,0.001771608,0.006642494,0.000579002,0.0001069772,0.0005120363],"domain_scores_gemma":[0.9926798,0.001549889,0.004527696,0.0006931312,0.0005134019,0.00003612052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0002230641,0.0009382989,0.00002122595,0.03095125,0.001944933,0.07404011,0.0008153719,0.000001633729,0.000215568,0.0001950711,0.0002016205,0.8904518],"study_design_scores_gemma":[0.00141572,0.001888151,0.0002582489,0.1673642,0.001144009,0.5538664,0.0002714494,4.125426e-7,0.000002618849,0.00006263286,0.2733098,0.0004163581],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007500141,0.9891583,0.00004748545,0.0003180823,0.00213211,0.0007405147,0.0000411419,0.00002285395,0.00003933664],"genre_scores_gemma":[0.00134119,0.9975494,0.0001651242,0.0002380691,0.00002094572,0.00003035635,0.0001346672,0.00006159193,0.000458666],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8900355,"threshold_uncertainty_score":0.999842,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1058683472914993,"score_gpt":0.4501873562180035,"score_spread":0.3443190089265042,"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."}}