{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003294644,0.0001868145,0.0004600474,0.0001367283,0.0001145687,0.0000184992,0.0008074511,0.0002084466,0.001927251],"category_scores_gemma":[0.0003640645,0.0001452116,0.0001748911,0.0002651532,0.0007106265,0.00005686579,0.000100089,0.001166399,0.0002434979],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001238242,"about_ca_system_score_gemma":0.000887008,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001504248,"about_ca_topic_score_gemma":0.00001442113,"domain_scores_codex":[0.9983602,0.0001221202,0.0006723086,0.0001712984,0.0002946404,0.0003794903],"domain_scores_gemma":[0.9988776,0.0001186771,0.0004907069,0.0002811466,0.0001115796,0.0001202803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001374552,0.0005741088,0.003454491,0.000005482433,0.0003039076,0.00005935575,0.001944047,0.000008294339,0.01483882,0.0003557442,0.03422097,0.9440973],"study_design_scores_gemma":[0.003041438,0.001917588,0.02812472,0.00007794661,0.00008581973,0.0007175746,0.0004763851,0.000004025662,0.002104105,0.0005488695,0.9626161,0.0002853796],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9829623,0.0112575,0.000450479,0.001572005,0.003313073,0.00007016932,0.000002105853,0.00001464125,0.0003577233],"genre_scores_gemma":[0.9971852,0.0007772194,0.0002194115,0.000726965,0.00004725445,7.090295e-7,0.00001577014,0.00001898205,0.001008467],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.943812,"threshold_uncertainty_score":0.9989851,"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."}}