{"id":"W2415163896","doi":"10.1016/j.jaci.2016.04.032","title":"X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene","year":2016,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":88,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre","funders":"Ligue Contre le Cancer; Institut National de la Santé et de la Recherche Médicale; Fondation ARC pour la Recherche sur le Cancer; Agence Nationale de la Recherche","keywords":"Moesin; Radixin; Missense mutation; Ezrin; Biology; Primary immunodeficiency; Nonsense mutation; Mutation; Hypogammaglobulinemia; Phenotype; Genetics; Immunology; Gene; Immune system; Antibody; Cell","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":[0.0001883119,0.001238937,0.0002792543,0.0009699414,0.0006963495,0.0004271865,0.0004394473,0.000983507,0.002901241],"category_scores_gemma":[0.0007355714,0.0002365985,0.0002322092,0.0006002288,0.0009225893,0.0003222423,0.0006170727,0.0004597196,0.0003194109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003576006,"about_ca_system_score_gemma":0.0002807822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001075836,"about_ca_topic_score_gemma":0.0009710939,"domain_scores_codex":[0.9998003,0.00002703757,0.00002411997,0.00004691218,0.00003761409,0.0000640535],"domain_scores_gemma":[0.9996494,0.0001326223,0.00008882741,0.00002121878,0.00001549202,0.00009244627],"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":[0.0004698857,0.0001034548,0.04302974,0.00007631897,0.00006663569,0.9052047,0.0003279763,0.0002758614,0.04486874,0.001062607,0.0003245974,0.004189517],"study_design_scores_gemma":[0.00009683052,0.0002232389,0.09106617,0.00002218472,0.00011184,0.8967711,0.000222163,0.0006479473,0.008958606,0.0005021282,0.001356986,0.00002074749],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948695,0.0003985155,0.0003731619,0.0001021072,0.00002018071,0.0000196427,0.0001086893,0.00002831964,0.004079929],"genre_scores_gemma":[0.9992006,0.00009390854,0.000203716,0.000023232,0.00002211378,0.000003509248,0.00003198404,0.000003235036,0.0004176472],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002901241,"threshold_uncertainty_score":0.009705544,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02876304958279775,"score_gpt":0.2976687485152934,"score_spread":0.2689056989324957,"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."}}