{"id":"W4403048748","doi":"10.1084/jem.20231152","title":"Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases","year":2024,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Université de Montréal; Montreal Clinical Research Institute; Hospital for Sick Children","funders":"National Institute of General Medical Sciences; Qatar National Research Fund; Science for Life Laboratory; Vetenskapsrådet; Stavros Niarchos Foundation; Institut National de la Santé et de la Recherche Médicale; National Institute on Aging; SCOR Corporate Foundation for Science; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Japan Society for the Promotion of Science; Sidra Medicine; Institut des maladies génétiques Imagine; St. Giles Foundation; Göran Gustafssons Stiftelser; National Center for Research Resources; Japan Agency for Medical Research and Development; Rockefeller University; National Center for Advancing Translational Sciences; Agence Nationale de la Recherche; National Institute of Allergy and Infectious Diseases; Howard Hughes Medical Institute","keywords":"Immunology; Autoantibody; Biology; Disease; Incontinentia pigmenti; Medicine; Antibody; Genetics; 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":[0.0001665152,0.0003838216,0.0002086802,0.001011456,0.0003660732,0.0002738919,0.000144219,0.000215369,0.001676539],"category_scores_gemma":[0.0007269207,0.0001892376,0.000186241,0.0003776608,0.0003611241,0.0001918529,0.0003507399,0.0001798408,0.0002006805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001520642,"about_ca_system_score_gemma":0.00009285275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006022812,"about_ca_topic_score_gemma":0.0005743801,"domain_scores_codex":[0.9998388,0.00003066512,0.00001488818,0.00004410559,0.00003076507,0.00004076343],"domain_scores_gemma":[0.9996306,0.00006875295,0.0001646076,0.00002954011,0.00002300128,0.00008352368],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005206278,0.00003953746,0.9490282,0.00003010988,0.00005221559,0.01917307,0.0002483142,0.0001079977,0.02388844,0.0001295756,0.0001606448,0.006621323],"study_design_scores_gemma":[0.00001544032,0.0001437307,0.9096125,0.00001215147,0.00004446968,0.08533916,0.0002692608,0.000169965,0.003482293,0.00008108032,0.0008233509,0.000006591215],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993753,0.0001684477,0.00008456153,0.00001009556,0.000001510549,0.000002279976,0.00003081868,0.000004041872,0.0003229546],"genre_scores_gemma":[0.9996612,0.00008838845,0.00006273038,0.000008151509,0.000005114002,0.00000158331,0.00003752456,0.000002030446,0.0001333226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001676539,"threshold_uncertainty_score":0.005608559,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007341199675630844,"score_gpt":0.285963209348194,"score_spread":0.2786220096725632,"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."}}