{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002395763,0.001267806,0.001724067,0.003472141,0.000463082,0.001244103,0.001502369,0.002514013,0.00169677],"category_scores_gemma":[0.0007345628,0.0004298456,0.0007402985,0.0024154,0.0009061819,0.001634102,0.0007192954,0.001413407,0.0008564167],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005157909,"about_ca_system_score_gemma":0.0007729576,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001117997,"about_ca_topic_score_gemma":0.001418109,"domain_scores_codex":[0.9996929,0.00002868519,0.00009359459,0.00008431955,0.00005399298,0.00004651021],"domain_scores_gemma":[0.9995601,0.0002441833,0.00009248836,0.00001470057,0.00003948932,0.00004918972],"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":[0.0001018285,0.00009899072,0.005239127,0.005982917,0.0001786851,0.7766027,0.0002648174,0.0004525066,0.005359171,0.001077639,0.01804731,0.1865942],"study_design_scores_gemma":[0.00001427581,0.00003722277,0.004480218,0.001584545,0.0002859233,0.9104083,0.0002794878,0.0001333246,0.001120475,0.0007991366,0.08080536,0.00005185034],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01197368,0.9807833,0.001123789,0.001343353,0.0008972529,0.0000194756,0.0001799177,0.00007027392,0.003608932],"genre_scores_gemma":[0.05049633,0.9415694,0.002002437,0.001692577,0.002023051,0.00001585458,0.0002642797,0.00002474895,0.001911239],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003472141,"threshold_uncertainty_score":0.00567627,"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."}}