{"id":"W4318069773","doi":"10.1089/derm.2022.0057","title":"Germline Mosaicism in <i>STAT3</i> : A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome","year":2023,"lang":"en","type":"article","venue":"Dermatitis","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Germline; Genetic counseling; Immunoglobulin E; Immunology; Genetics; Antibody; Gene; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004654413,0.0003462272,0.0003157971,0.0004599758,0.0004586011,0.0006008189,0.0004417462,0.001553655,0.002290878],"category_scores_gemma":[0.001574724,0.00009607786,0.0002219095,0.0002197808,0.0009949778,0.0004218792,0.0002851809,0.001658693,0.0004516076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004038219,"about_ca_system_score_gemma":0.000431298,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000832566,"about_ca_topic_score_gemma":0.001137303,"domain_scores_codex":[0.9998193,0.00003356565,0.0000162377,0.00002914255,0.00005549584,0.00004624252],"domain_scores_gemma":[0.9993824,0.000383907,0.00007123393,0.00002562463,0.00004417729,0.00009263556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0005523172,0.0001767694,0.2175943,0.0002137588,0.00007592286,0.4039304,0.0008338961,0.001823326,0.1225748,0.0183117,0.02986231,0.2040505],"study_design_scores_gemma":[0.00005193735,0.0003659101,0.04807229,0.0004050364,0.0001653774,0.8596923,0.00137758,0.004610935,0.025052,0.01937898,0.04078234,0.00004536299],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8277423,0.0198782,0.01480126,0.07678997,0.001039912,0.00007728448,0.0004777754,0.001074007,0.0581192],"genre_scores_gemma":[0.9861914,0.003202696,0.003653236,0.004852694,0.0007876024,0.000008794186,0.0000553143,0.00007894203,0.001169424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002290878,"threshold_uncertainty_score":0.007663727,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01079757695376101,"score_gpt":0.2313251317587479,"score_spread":0.2205275548049869,"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."}}