{"id":"W2040711646","doi":"10.1002/ajmg.a.33678","title":"Hoffman syndrome: New patients, new insights","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Bundesministerium für Bildung und Forschung","keywords":"Hypogammaglobulinemia; Common variable immunodeficiency; Immunodeficiency; Girl; Medicine; Pediatrics; Immunodeficiency Syndrome; Facial dysmorphism; Dermatology; Immunology; Antibody; Immune system; Genetics; Biology; Phenotype","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":[0.0002582045,0.001253413,0.0009776042,0.001389264,0.0007102127,0.00112373,0.0008409811,0.002566674,0.003044538],"category_scores_gemma":[0.00143273,0.0005682443,0.0004685958,0.00108704,0.0008572706,0.001454832,0.0006458225,0.00118386,0.001031472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004604248,"about_ca_system_score_gemma":0.0003482341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009577126,"about_ca_topic_score_gemma":0.001214956,"domain_scores_codex":[0.999684,0.00004549061,0.00004307803,0.00007992004,0.0000622596,0.00008543763],"domain_scores_gemma":[0.9995271,0.0001426755,0.00009637635,0.00003989699,0.00003873297,0.0001552361],"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":[0.0003279767,0.0003630868,0.1044432,0.0003976721,0.0001019134,0.7537152,0.001765,0.0004701148,0.005391548,0.003309201,0.01717636,0.1125387],"study_design_scores_gemma":[0.00004688661,0.00007748474,0.01306369,0.00005777826,0.00003193129,0.9775833,0.0002433625,0.0001142998,0.0001884921,0.001333239,0.007230429,0.00002919413],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8525598,0.08664525,0.005472088,0.009730132,0.001077778,0.0002210134,0.001056221,0.0005954207,0.04264227],"genre_scores_gemma":[0.9419492,0.03828842,0.004643071,0.00521327,0.003539342,0.0002025899,0.0006998963,0.00007177146,0.005392504],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003044538,"threshold_uncertainty_score":0.010185,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005656566954061082,"score_gpt":0.2320409006915309,"score_spread":0.2263843337374698,"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."}}