{"id":"https://openalex.org/W4397018807","doi":"https://doi.org/10.1111/sji.13373","title":"IFIH1 loss of function predisposes to inflammatory and SARS\u2010CoV \u20102\u2010related infectious diseases","display_name":"IFIH1 loss of function predisposes to inflammatory and SARS\u2010CoV \u20102\u2010related infectious diseases","publication_year":2024,"publication_date":"2024-05-16","ids":{"openalex":"https://openalex.org/W4397018807","doi":"https://doi.org/10.1111/sji.13373","pmid":"https://pubmed.ncbi.nlm.nih.gov/38757311"},"language":"en","primary_location":{"id":"doi:10.1111/sji.13373","doi":"https://doi.org/10.1111/sji.13373","is_oa":true,"landing_page_url":"https://doi.org/10.1111/sji.13373","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/sji.13373","source":{"id":"https://openalex.org/S79173686","display_name":"Scandinavian Journal of Immunology","issn_l":"0300-9475","issn":["0300-9475","1365-3083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scandinavian Journal of Immunology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/sji.13373","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020378682","display_name":"Rania Najm","orcid":"https://orcid.org/0000-0002-7685-0760","observed_orcids":["https://orcid.org/0000-0002-7685-0760"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Rania Najm","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084172956","display_name":"Lemis Yavuz","orcid":"https://orcid.org/0000-0002-1970-6930","observed_orcids":["https://orcid.org/0000-0002-1970-6930"]},"institutions":[{"id":"https://openalex.org/I2800866514","display_name":"Al Jalila Foundation","ror":"https://ror.org/03zpd7f57","country_code":"AE","type":"nonprofit","lineage":["https://openalex.org/I2800866514"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Lemis Yavuz","raw_affiliation_strings":["Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I2800866514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101891030","display_name":"Ruchi Jain","orcid":"https://orcid.org/0000-0001-9395-1275","observed_orcids":["https://orcid.org/0000-0001-9395-1275"]},"institutions":[{"id":"https://openalex.org/I1287366011","display_name":"Dubai Health Authority","ror":"https://ror.org/01dcrt245","country_code":"AE","type":"government","lineage":["https://openalex.org/I1287366011"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Ruchi Jain","raw_affiliation_strings":["Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","institution_ids":[]},{"raw_affiliation_string":"Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I1287366011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085975800","display_name":"Maha El Naofal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1287366011","display_name":"Dubai Health Authority","ror":"https://ror.org/01dcrt245","country_code":"AE","type":"government","lineage":["https://openalex.org/I1287366011"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Maha El Naofal","raw_affiliation_strings":["Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","institution_ids":[]},{"raw_affiliation_string":"Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I1287366011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004922813","display_name":"Sathishkumar Ramaswamy","orcid":"https://orcid.org/0000-0002-7467-6658","observed_orcids":["https://orcid.org/0000-0002-7467-6658"]},"institutions":[{"id":"https://openalex.org/I1287366011","display_name":"Dubai Health Authority","ror":"https://ror.org/01dcrt245","country_code":"AE","type":"government","lineage":["https://openalex.org/I1287366011"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Sathishkumar Ramaswamy","raw_affiliation_strings":["Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","institution_ids":[]},{"raw_affiliation_string":"Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I1287366011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001607929","display_name":"Walid Abuhammour","orcid":"https://orcid.org/0000-0001-5748-549X","observed_orcids":["https://orcid.org/0000-0001-5748-549X"]},"institutions":[{"id":"https://openalex.org/I2800866514","display_name":"Al Jalila Foundation","ror":"https://ror.org/03zpd7f57","country_code":"AE","type":"nonprofit","lineage":["https://openalex.org/I2800866514"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Walid Abuhammour","raw_affiliation_strings":["Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I2800866514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028962454","display_name":"Tom Loney","orcid":"https://orcid.org/0000-0003-1687-6587","observed_orcids":["https://orcid.org/0000-0003-1687-6587"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Tom Loney","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000432534","display_name":"Norbert R. Nowotny","orcid":"https://orcid.org/0000-0002-3548-571X","observed_orcids":["https://orcid.org/0000-0002-3548-571X"]},"institutions":[{"id":"https://openalex.org/I150540706","display_name":"University of Veterinary Medicine Vienna","ror":"https://ror.org/01w6qp003","country_code":"AT","type":"education","lineage":["https://openalex.org/I150540706"]},{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE","AT"],"is_corresponding":false,"raw_author_name":"Norbert Nowotny","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","Institute of Virology, University of Veterinary Medicine Vienna, Vienna, Austria","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"Institute of Virology, University of Veterinary Medicine Vienna, Vienna, Austria","institution_ids":["https://openalex.org/I150540706"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053927567","display_name":"Alawi A.A. Alsheikh-Ali","orcid":"https://orcid.org/0000-0002-1213-4546","observed_orcids":["https://orcid.org/0000-0002-1213-4546"]},"institutions":[{"id":"https://openalex.org/I1287366011","display_name":"Dubai Health Authority","ror":"https://ror.org/01dcrt245","country_code":"AE","type":"government","lineage":["https://openalex.org/I1287366011"]},{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Alawi Alsheikh-Ali","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","Dubai Academic Health Corporation, Dubai, United Arab Emirates","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates","Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":"https://orcid.org/0000-0002-1213-4546","affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"Dubai Academic Health Corporation, Dubai, United Arab Emirates","institution_ids":[]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I1287366011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054572812","display_name":"Ahmad N. Abou Tayoun","orcid":"https://orcid.org/0000-0002-9134-1673","observed_orcids":["https://orcid.org/0000-0002-9134-1673"]},"institutions":[{"id":"https://openalex.org/I1287366011","display_name":"Dubai Health Authority","ror":"https://ror.org/01dcrt245","country_code":"AE","type":"government","lineage":["https://openalex.org/I1287366011"]},{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":true,"raw_author_name":"Ahmad Abou Tayoun","raw_affiliation_strings":["Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates"],"raw_orcid":"https://orcid.org/0000-0002-9134-1673","affiliations":[{"raw_affiliation_string":"Al Jalila Genomics Center, Al Jalila Children\u2019s Hospital, Dubai, United Arab Emirates","institution_ids":[]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I1287366011"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5083127295","display_name":"Richard K. Kandasamy","orcid":"https://orcid.org/0000-0002-0894-1222","observed_orcids":["https://orcid.org/0000-0002-0894-1222"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I164861460","display_name":"Manipal Academy of Higher Education","ror":"https://ror.org/02xzytt36","country_code":"IN","type":"education","lineage":["https://openalex.org/I164861460"]}],"countries":["IN","US"],"is_corresponding":true,"raw_author_name":"Richard K. Kandasamy","raw_affiliation_strings":["Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, United States","Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, United States","Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA","Departments of Laboratory Medicine and Pathology and Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA","Manipal Academy of Higher Education (MAHE), Manipal, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, United States","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, United States","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Departments of Laboratory Medicine and Pathology and Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Manipal Academy of Higher Education (MAHE), Manipal, India","institution_ids":["https://openalex.org/I164861460"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5054572812","https://openalex.org/A5083127295"],"corresponding_institution_ids":["https://openalex.org/I1287366011","https://openalex.org/I1330342723","https://openalex.org/I164861460","https://openalex.org/I4210108087"],"apc_list":{"value":4270,"currency":"USD","value_usd":4270},"apc_paid":null,"fwci":2.0595,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.86907153,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"100","issue":"2","first_page":"e13373","last_page":"e13373"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11668","display_name":"interferon and immune responses","score":0.5249000191688538,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11668","display_name":"interferon and immune responses","score":0.5249000191688538,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.4447999894618988,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.011699999682605267,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mda5","display_name":"MDA5","score":0.9980000257492065},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.9599999785423279},{"id":"https://openalex.org/keywords/monogenic-immunodeficiency","display_name":"monogenic immunodeficiency","score":0.7080000042915344},{"id":"https://openalex.org/keywords/recurrent-infections","display_name":"recurrent infections","score":0.6940000057220459},{"id":"https://openalex.org/keywords/covid-19","display_name":"COVID-19 pandemic","score":0.7599999904632568},{"id":"https://openalex.org/keywords/multisystem-inflammatory-syndrome-in-children","display_name":"multisystem inflammatory syndrome in children","score":0.9769999980926514},{"id":"https://openalex.org/keywords/inflammatory-bowel-disease","display_name":"inflammatory bowel disease","score":0.9480000138282776},{"id":"https://openalex.org/keywords/periodic-fever","display_name":"periodic fever","score":0.7720000147819519},{"id":"https://openalex.org/keywords/lymphopenia","display_name":"lymphopenia","score":0.7080000042915344},{"id":"https://openalex.org/keywords/innate-immunity","display_name":"innate immunity","score":0.6209999918937683},{"id":"https://openalex.org/keywords/interferon-stimulated-genes","display_name":"interferon-stimulated genes","score":0.6600000262260437},{"id":"https://openalex.org/keywords/isg15","display_name":"ISG15","score":0.6769999861717224},{"id":"https://openalex.org/keywords/interferon-gamma","display_name":"interferon-gamma","score":0.9679999947547913},{"id":"https://openalex.org/keywords/sars-cov-2","display_name":"SARS-CoV-2","score":0.7149999737739563},{"id":"https://openalex.org/keywords/glomerulonephritis","display_name":"glomerulonephritis","score":0.7639999985694885},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.4860000014305115}],"concepts":[{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.6542868614196777},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.6237856149673462},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5847647190093994},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.5775241851806641},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5317282676696777},{"id":"https://openalex.org/C134474686","wikidata":"https://www.wikidata.org/wiki/Q21111069","display_name":"MDA5","level":5,"score":0.5136113166809082},{"id":"https://openalex.org/C137061746","wikidata":"https://www.wikidata.org/wiki/Q736033","display_name":"Peripheral blood mononuclear cell","level":3,"score":0.4816676378250122},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.4695756137371063},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4081631898880005},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3551764488220215},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3411935567855835},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2994667887687683},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1603160798549652},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.1594819724559784},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.0984129011631012},{"id":"https://openalex.org/C166703698","wikidata":"https://www.wikidata.org/wiki/Q201993","display_name":"RNA interference","level":4,"score":0.09615567326545715},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000072640","descriptor_name":"Interferon-Induced Helicase, IFIH1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073658","descriptor_name":"Loss of Function Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000086382","descriptor_name":"COVID-19","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D000086382","descriptor_name":"COVID-19","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000086382","descriptor_name":"COVID-19","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D000086402","descriptor_name":"SARS-CoV-2","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007249","descriptor_name":"Inflammation","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018746","descriptor_name":"Systemic Inflammatory Response Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018746","descriptor_name":"Systemic Inflammatory Response Syndrome","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1111/sji.13373","doi":"https://doi.org/10.1111/sji.13373","is_oa":true,"landing_page_url":"https://doi.org/10.1111/sji.13373","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/sji.13373","source":{"id":"https://openalex.org/S79173686","display_name":"Scandinavian Journal of Immunology","issn_l":"0300-9475","issn":["0300-9475","1365-3083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scandinavian Journal of Immunology","raw_type":"journal-article"},{"id":"doi:10.1101/2023.10.13.23297034","doi":"https://doi.org/10.1101/2023.10.13.23297034","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2023.10.13.23297034","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2023/10/15/2023.10.13.23297034.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nd","license_id":"https://openalex.org/licenses/cc-by-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"doi:10.21203/rs.3.rs-3482379/v1","doi":"https://doi.org/10.21203/rs.3.rs-3482379/v1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.21203/rs.3.rs-3482379/v1","pdf_url":"https://www.researchsquare.com/article/rs-3482379/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmid:38757311","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38757311","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scandinavian journal of immunology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1111/sji.13373","doi":"https://doi.org/10.1111/sji.13373","is_oa":true,"landing_page_url":"https://doi.org/10.1111/sji.13373","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/sji.13373","source":{"id":"https://openalex.org/S79173686","display_name":"Scandinavian Journal of Immunology","issn_l":"0300-9475","issn":["0300-9475","1365-3083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scandinavian Journal of Immunology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7650569433","display_name":null,"funder_award_id":"AJF202059","funder_id":"https://openalex.org/F4320313184","funder_display_name":"Al Jalila Foundation"}],"funders":[{"id":"https://openalex.org/F4320313184","display_name":"Al Jalila Foundation","ror":"https://ror.org/03zpd7f57"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4397018807.pdf","grobid_xml":"https://content.openalex.org/works/W4397018807.grobid-xml"},"referenced_works_count":70,"referenced_works":["https://openalex.org/W23432550","https://openalex.org/W1542158376","https://openalex.org/W1625891503","https://openalex.org/W1968037347","https://openalex.org/W1984394497","https://openalex.org/W1987484835","https://openalex.org/W1989032379","https://openalex.org/W1999563631","https://openalex.org/W2008580692","https://openalex.org/W2026663320","https://openalex.org/W2041088807","https://openalex.org/W2051227636","https://openalex.org/W2056088720","https://openalex.org/W2071629813","https://openalex.org/W2086276640","https://openalex.org/W2114570899","https://openalex.org/W2126385937","https://openalex.org/W2131889332","https://openalex.org/W2143119237","https://openalex.org/W2297994856","https://openalex.org/W2489911374","https://openalex.org/W2604033016","https://openalex.org/W2605968187","https://openalex.org/W2619592111","https://openalex.org/W2624676014","https://openalex.org/W2625723100","https://openalex.org/W2735796242","https://openalex.org/W2758704676","https://openalex.org/W2765252593","https://openalex.org/W2782827309","https://openalex.org/W2784999778","https://openalex.org/W2790780516","https://openalex.org/W2802731336","https://openalex.org/W2890697585","https://openalex.org/W2899963725","https://openalex.org/W2905162518","https://openalex.org/W2907665228","https://openalex.org/W2908079023","https://openalex.org/W2922286507","https://openalex.org/W2957468385","https://openalex.org/W2968844127","https://openalex.org/W2995721821","https://openalex.org/W3011498764","https://openalex.org/W3034894609","https://openalex.org/W3041960835","https://openalex.org/W3092016255","https://openalex.org/W3110924399","https://openalex.org/W3119154803","https://openalex.org/W3122869867","https://openalex.org/W3139367841","https://openalex.org/W3175605945","https://openalex.org/W3175817142","https://openalex.org/W3176425719","https://openalex.org/W3203249895","https://openalex.org/W4213415800","https://openalex.org/W4220829053","https://openalex.org/W4224435377","https://openalex.org/W4281743020","https://openalex.org/W4281784019","https://openalex.org/W4283524538","https://openalex.org/W4283577401","https://openalex.org/W4306318945","https://openalex.org/W4313593783","https://openalex.org/W4318174435","https://openalex.org/W4388822522","https://openalex.org/W6600231488","https://openalex.org/W6663032235","https://openalex.org/W6792790731","https://openalex.org/W6845980328","https://openalex.org/W7075694812"],"related_works":["https://openalex.org/W7127635766","https://openalex.org/W4310224742","https://openalex.org/W7203824427","https://openalex.org/W4404198459","https://openalex.org/W4206043508","https://openalex.org/W4412892664","https://openalex.org/W4395087123","https://openalex.org/W3040839309","https://openalex.org/W4392647304","https://openalex.org/W2735796242"],"abstract_inverted_index":{"The":[0,129],"IFIH1":[1,45,88,168,227],"gene,":[2],"encoding":[3],"melanoma":[4],"differentiation-associated":[5],"protein":[6],"5":[7],"(MDA5),":[8],"is":[9],"an":[10,100],"indispensable":[11],"innate":[12],"immune":[13,217,233],"regulator":[14],"involved":[15],"in":[16,28,80,102,134,138,153,177,195,230],"the":[17,44,121,135,148,216,222,232],"early":[18],"detection":[19],"of":[20,43,97,171,184,224],"viral":[21],"infections.":[22],"Previous":[23],"studies":[24],"described":[25],"MDA5":[26,212],"dysregulation":[27],"weakened":[29],"immunological":[30],"responses,":[31],"and":[32,38,55,99,110,127,173,198,235,241],"increased":[33],"susceptibility":[34,174],"to":[35,175,203,239],"microbial":[36],"infections":[37,176],"autoimmune":[39],"disorders.":[40,246],"Monoallelic":[41],"gain-of-function":[42],"gene":[46],"has":[47],"been":[48],"associated":[49],"with":[50,85,114,156,187,208],"multisystem":[51,77],"disorders,":[52],"namely":[53],"Aicardi-Goutieres":[54],"Singleton-Merten":[56],"syndromes,":[57],"while":[58,147],"biallelic":[59],"loss":[60,170],"causes":[61],"immunodeficiency.":[62],"In":[63],"this":[64],"study,":[65],"nine":[66],"patients":[67,94,139,155,238],"suffering":[68,140],"from":[69,141],"recurrent":[70],"infections,":[71],"inflammatory":[72,78,103,157,240],"diseases,":[73,243],"severe":[74,123],"COVID-19":[75,144],"or":[76,145,160],"syndrome":[79],"children":[81],"(MIS-C)":[82],"were":[83],"identified":[84,133,152],"putative":[86],"loss-of-function":[87,228],"variants":[89,229],"by":[90],"whole-exome":[91],"sequencing.":[92],"All":[93],"revealed":[95],"signs":[96],"lymphopaenia":[98],"increase":[101],"markers,":[104],"including":[105,244],"CRP,":[106],"amyloid":[107],"A,":[108],"ferritin":[109],"IL-6.":[111],"One":[112],"patient":[113,186],"a":[115,164,188,192],"pathogenic":[116],"homozygous":[117],"variant":[118,131,150,190],"c.2807+1G>A":[119],"was":[120,132,151,163],"most":[122],"case":[124],"showing":[125],"immunodeficiency":[126],"glomerulonephritis.":[128],"c.1641+1G>C":[130],"heterozygous":[136],"state":[137],"periodic":[142],"fever,":[143],"MIS-C,":[146],"c.2016delA":[149,189],"two":[154],"bowel":[158],"disease":[159],"MIS-C.":[161],"There":[162],"significant":[165,193],"association":[166],"between":[167],"monoallelic":[169],"function":[172],"males.":[178],"Expression":[179],"analysis":[180],"showed":[181],"that":[182,211],"PBMCs":[183],"one":[185],"had":[191],"decrease":[194],"ISG15,":[196],"IFNA":[197],"IFNG":[199],"transcript":[200],"levels,":[201],"compared":[202],"normal":[204],"PBMCs,":[205],"upon":[206],"stimulation":[207],"Poly(I:C),":[209],"suggesting":[210],"receptor":[213],"truncation":[214],"disrupts":[215],"response.":[218],"Our":[219],"findings":[220],"accentuate":[221],"implication":[223],"rare":[225],"monogenic":[226],"altering":[231],"response,":[234],"severely":[236],"predisposing":[237],"infectious":[242],"SARS-CoV-2-related":[245]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-05-18T00:00:00"}
