{"id":"W4405444871","doi":"10.1084/jem.20241413","title":"A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity","year":2024,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"ASTER; SickKids Foundation; Hospital for Sick Children","funders":"NIH Clinical Center; National Institute of Allergy and Infectious Diseases; Fisher Center for Alzheimer's Research Foundation; Agence Nationale de la Recherche; National Center for Research Resources; King Abdulaziz City for Science and Technology; Stavros Niarchos Foundation; King Abdullah University of Science and Technology; National Center for Advancing Translational Sciences; King Saud University; SCOR Corporate Foundation for Science; Institut des maladies génétiques Imagine; Karolinska Institutet; Institut National de la Santé et de la Recherche Médicale; University of Texas Southwestern Medical Center; Fondation du Souffle; Wellcome Trust; Meyer Foundation; Rockefeller University; National Institutes of Health; American Lung Association; St. Giles Foundation; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Institut de Recherche pour le Développement; Howard Hughes Medical Institute","keywords":"Biology; Allele; Dominance (genetics); Haploinsufficiency; Genetics; Interferon; Immunity; Immunology; Phenotype; Heterozygote advantage; Gene; Immune system","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":[0.0001011362,0.0006436963,0.000255147,0.0002830866,0.0001773187,0.0001367479,0.0001592796,0.0002231809,0.002885114],"category_scores_gemma":[0.0001524325,0.0001066826,0.0001678557,0.0002012786,0.00025475,0.00008057782,0.0002362279,0.0002661498,0.0004438127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001548197,"about_ca_system_score_gemma":0.0001858974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001014833,"about_ca_topic_score_gemma":0.001527868,"domain_scores_codex":[0.9998492,0.00001977692,0.00001847162,0.00005778377,0.00003194058,0.00002275066],"domain_scores_gemma":[0.9998959,0.00001983328,0.00003334707,0.00001559392,0.000007189225,0.0000281556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003713917,0.00005601516,0.01288893,0.00007263849,0.00003291888,0.004492054,0.000110871,0.0001267319,0.9709896,0.0003222713,0.0003250152,0.01021156],"study_design_scores_gemma":[0.0002336388,0.001777988,0.2749259,0.00004875202,0.0001897922,0.1149928,0.0002780795,0.001766303,0.589444,0.000825878,0.01547278,0.00004400914],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968272,0.0003923084,0.001130959,0.00004136217,0.00001079075,0.00001455467,0.0004047203,0.00005572746,0.001122356],"genre_scores_gemma":[0.9975216,0.0001998607,0.0005893552,0.00003913285,0.000005453555,0.000009342769,0.0003222954,0.00001101689,0.001302041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002885114,"threshold_uncertainty_score":0.009651661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02034014412515426,"score_gpt":0.3169142886064337,"score_spread":0.2965741444812794,"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."}}