{"id":"W3120175537","doi":"10.1007/s10875-020-00930-3","title":"Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance","year":2021,"lang":"en","type":"article","venue":"Journal of Clinical Immunology","topic":"Metastasis and carcinoma case studies","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"European Regional Development Fund; Instituto de Salud Carlos III; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Université Paris Descartes; Instituto Colombiano de Crédito Educativo y Estudios Técnicos en el Exterior; Hospital for Sick Children; St. Giles Foundation; Fundação de Amparo à Pesquisa do Estado de São Paulo; Agence Nationale de la Recherche; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Institut National de la Santé et de la Recherche Médicale; Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS); Institut des maladies génétiques Imagine","keywords":"Penetrance; Haploinsufficiency; Primary immunodeficiency; Genetics; Biology; Bronchiectasis; Germline mutation; Medicine; Immunology; Mutation; Phenotype; Internal medicine; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.0003000334,0.001017412,0.000443487,0.001257698,0.0006071051,0.000403211,0.0006202659,0.001184912,0.006046723],"category_scores_gemma":[0.001177461,0.0003668189,0.0003606029,0.0005138404,0.001166926,0.0003887396,0.0006083226,0.000623667,0.0005339272],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003249445,"about_ca_system_score_gemma":0.0003320229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002073921,"about_ca_topic_score_gemma":0.001868844,"domain_scores_codex":[0.9996588,0.00005360512,0.00003933491,0.00009225514,0.00006496645,0.00009100571],"domain_scores_gemma":[0.9992508,0.000346133,0.000132096,0.00005226736,0.00004340611,0.0001752935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002841996,0.0001002678,0.02187966,0.0001092838,0.00003131601,0.9212879,0.0006434134,0.0001155841,0.05022607,0.000935344,0.0004275015,0.003959436],"study_design_scores_gemma":[0.00003272165,0.0002514465,0.02984516,0.00001746547,0.00006310495,0.9564708,0.0001896485,0.0002686157,0.01092058,0.0002472947,0.001676131,0.00001700044],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872463,0.001039777,0.001272946,0.000616847,0.00003288945,0.00004424528,0.0004249566,0.00009829968,0.009223861],"genre_scores_gemma":[0.9973897,0.0002525506,0.0005042625,0.00006599758,0.00002298781,0.000006260464,0.00009139338,0.00002485912,0.001642001],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006046723,"threshold_uncertainty_score":0.02022827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08894270981803488,"score_gpt":0.4123403749193491,"score_spread":0.3233976651013142,"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."}}