{"id":"W2626447273","doi":"10.1038/s41598-017-02434-4","title":"Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes","year":2017,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"Universiteit Gent; Vlaamse regering; NIH Clinical Center; Bijzonder Onderzoeksfonds UGent; National Institutes of Health; Universitair Ziekenhuis Gent; Fonds Wetenschappelijk Onderzoek","keywords":"Common variable immunodeficiency; Primary immunodeficiency; Exome sequencing; Medicine; Immunodeficiency; Immunology; Phenotype; Disease; Sibling; Clinical phenotype; Immune system; Biology; Antibody; Genetics; Gene; Pathology","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":[0.00073679,0.0004839579,0.000515359,0.0006127782,0.0003789358,0.0004536982,0.0004447112,0.00108051,0.001384286],"category_scores_gemma":[0.002698551,0.0002213341,0.0001928931,0.0002983886,0.000599611,0.0007650123,0.0005630273,0.0007611934,0.0004068437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001868264,"about_ca_system_score_gemma":0.0002851042,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000429921,"about_ca_topic_score_gemma":0.0006907936,"domain_scores_codex":[0.9995803,0.000122484,0.00006757701,0.00006063095,0.00008963032,0.00007941746],"domain_scores_gemma":[0.9993283,0.0003357514,0.0001421664,0.00005135923,0.00004235014,0.0001002711],"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":[0.0002059302,0.00007735384,0.2732393,0.0002264397,0.00005958659,0.6144931,0.0009422962,0.0002981701,0.05532993,0.002079869,0.002417313,0.05063074],"study_design_scores_gemma":[0.0000137997,0.0001512882,0.06201548,0.00009131752,0.00003596176,0.9253505,0.0006719342,0.0004256177,0.004824033,0.001286179,0.005120178,0.00001361011],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9805305,0.007617649,0.003818746,0.001558278,0.000159737,0.00004122142,0.00007461409,0.00008375473,0.006115515],"genre_scores_gemma":[0.9945962,0.002088106,0.002559725,0.0003258587,0.0001268825,0.000006580988,0.00004401215,0.000009575016,0.0002431754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001384286,"threshold_uncertainty_score":0.004630923,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02615305647882093,"score_gpt":0.2769108087356283,"score_spread":0.2507577522568074,"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."}}