{"id":"https://openalex.org/W7171532223","doi":"https://doi.org/10.5409/wjcp.119428","title":"Clinical and laboratory manifestations and treatment of children with TNFRSF1A gene variants","display_name":"Clinical and laboratory manifestations and treatment of children with TNFRSF1A gene variants","publication_year":2026,"publication_date":"2026-07-28","ids":{"openalex":"https://openalex.org/W7171532223","doi":"https://doi.org/10.5409/wjcp.119428","pmid":"https://pubmed.ncbi.nlm.nih.gov/42626148","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13491080"},"language":"en","primary_location":{"id":"doi:10.5409/wjcp.119428","doi":"https://doi.org/10.5409/wjcp.119428","is_oa":true,"landing_page_url":"https://doi.org/10.5409/wjcp.119428","pdf_url":"https://rcastoragev2.blob.core.windows.net/1bc8452a4589508c88aef6894b3e0428/PMC4251160.pdf","source":{"id":"https://openalex.org/S2738182854","display_name":"World Journal of Clinical Pediatrics","issn_l":"2219-2808","issn":["2219-2808"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World Journal of Clinical Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://rcastoragev2.blob.core.windows.net/1bc8452a4589508c88aef6894b3e0428/PMC4251160.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069622085","display_name":"Ekaterina I. Alexeeva","orcid":"https://orcid.org/0000-0002-3874-4721","observed_orcids":["https://orcid.org/0000-0002-3874-4721"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Ekaterina I Alexeeva","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Children's Health Named After N.F. Filatov of the I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119435, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]},{"raw_affiliation_string":"Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Children's Health Named After N.F. Filatov of the I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119435, Moskva, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113861675","display_name":"M. Shingarova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Meiri Sh Shingarova","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112468759","display_name":"Tatyana M. Dvoryakovskaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Tatyana M Dvoryakovskaya","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Children's Health Named After N.F. Filatov of the I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119435, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]},{"raw_affiliation_string":"Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Children's Health Named After N.F. Filatov of the I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119435, Moskva, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112400233","display_name":"Ksenia Isaeva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Ksenia B Isaeva","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038542822","display_name":"Aleksandra M. Chomakhidze","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Aleksandra M Chomakhidze","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022593892","display_name":"Anna N. Fetisova","orcid":"https://orcid.org/0000-0002-8959-1606","observed_orcids":["https://orcid.org/0000-0002-8959-1606"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Anna N Fetisova","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053661160","display_name":"K.V. Chibisova","orcid":"https://orcid.org/0000-0002-9303-3543","observed_orcids":["https://orcid.org/0000-0002-9303-3543"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Kristina V Chibisova","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026683952","display_name":"Elizaveta A. Krekhova","orcid":"https://orcid.org/0000-0001-5732-8873","observed_orcids":["https://orcid.org/0000-0001-5732-8873"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Elizaveta A Krekhova","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025474591","display_name":"I.A. Kriulin","orcid":"https://orcid.org/0000-0003-2370-3182","observed_orcids":["https://orcid.org/0000-0003-2370-3182"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Ivan A Kriulin","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031700767","display_name":"T.Yu. Kriulina","orcid":"https://orcid.org/0009-0009-9198-0414","observed_orcids":["https://orcid.org/0009-0009-9198-0414"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Tatyana Y Kriulina","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045637489","display_name":"Irina T. Tsulukiya","orcid":"https://orcid.org/0000-0002-3720-9452","observed_orcids":["https://orcid.org/0000-0002-3720-9452"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Irina T Tsulukiya","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039724667","display_name":"Maria S. Botova","orcid":"https://orcid.org/0000-0002-8994-6833","observed_orcids":["https://orcid.org/0000-0002-8994-6833"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Maria S Botova","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031676514","display_name":"N.M. Kondratyeva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Natalya M Kondratyeva","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068157704","display_name":"M.Yu. Kokina","orcid":"https://orcid.org/0000-0002-3466-2868","observed_orcids":["https://orcid.org/0000-0002-3466-2868"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Maria Y Kokina","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5143793018","display_name":"Anastasia A Makunc","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Anastasia A Makunc","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5143777225","display_name":"Narvik A Dostiev","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Narvik A Dostiev","raw_affiliation_strings":["Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Rheumatology, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042350845","display_name":"Kirill Victorovich Savostyanov","orcid":"https://orcid.org/0000-0003-4885-4171","observed_orcids":["https://orcid.org/0000-0003-4885-4171"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Kirill V Savostyanov","raw_affiliation_strings":["Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019063390","display_name":"Alexander A. Pushkov","orcid":"https://orcid.org/0000-0001-6648-2063","observed_orcids":["https://orcid.org/0000-0001-6648-2063"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Aleksandr A Pushkov","raw_affiliation_strings":["Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019471527","display_name":"Ilya S. Zhanin","orcid":"https://orcid.org/0000-0003-1423-0379","observed_orcids":["https://orcid.org/0000-0003-1423-0379"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Ilya S Zhanin","raw_affiliation_strings":["Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106531265","display_name":"D.S. Demianov","orcid":"https://orcid.org/0000-0002-4622-3010","observed_orcids":["https://orcid.org/0000-0002-4622-3010"]},"institutions":[{"id":"https://openalex.org/I4210158655","display_name":"Scientific Center of Children's Health","ror":"https://ror.org/049317064","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210117042","https://openalex.org/I4210158655"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Dmitry S Demyanov","raw_affiliation_strings":["Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children's Health, Moscow 119991, Moskva, Russia","institution_ids":["https://openalex.org/I4210158655"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074405532","display_name":"Mikhail Mikhaylovich Kostik","orcid":"https://orcid.org/0000-0002-1180-8086","observed_orcids":["https://orcid.org/0000-0002-1180-8086"]},"institutions":[{"id":"https://openalex.org/I74756048","display_name":"Saint Petersburg State Pediatric Medical University","ror":"https://ror.org/000hzy098","country_code":"RU","type":"education","lineage":["https://openalex.org/I74756048"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Mikhail M Kostik","raw_affiliation_strings":["Hospital Pediatry, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Pediatry, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru","institution_ids":["https://openalex.org/I74756048"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"15","issue":"3","first_page":"119428","last_page":"119428"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.8105000257492065,"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"}},"topics":[{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.8105000257492065,"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"}},{"id":"https://openalex.org/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.16930000483989716,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.016899999231100082,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/tnfrsf1a","display_name":"TNFRSF1A","score":0.8479999899864197},{"id":"https://openalex.org/keywords/tnfr1","display_name":"TNFR1","score":0.7519999742507935},{"id":"https://openalex.org/keywords/tumor-necrosis-factor-receptor-associated-periodic-syndrome","display_name":"tumor necrosis factor receptor-associated periodic syndrome","score":0.9259999990463257},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.7630000114440918},{"id":"https://openalex.org/keywords/systemic-juvenile-idiopathic-arthritis","display_name":"systemic juvenile idiopathic arthritis","score":0.9350000023841858},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.33799999952316284},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.7200000286102295},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.6700000166893005},{"id":"https://openalex.org/keywords/intestinal-injury","display_name":"intestinal injury","score":0.5450000166893005},{"id":"https://openalex.org/keywords/antirheumatic-therapy","display_name":"antirheumatic therapy","score":0.7749999761581421},{"id":"https://openalex.org/keywords/biological-therapy","display_name":"biologic therapy","score":0.6179999709129333},{"id":"https://openalex.org/keywords/tnf-alpha-inhibitors","display_name":"TNF-alpha inhibitors","score":0.42800000309944153},{"id":"https://openalex.org/keywords/il-1-inhibitors","display_name":"IL-1 inhibitors","score":0.6150000095367432},{"id":"https://openalex.org/keywords/il-18-receptor-antagonist","display_name":"IL-18 receptor antagonist","score":0.5759999752044678},{"id":"https://openalex.org/keywords/il-17-receptor-antagonist","display_name":"IL-17 receptor antagonist","score":0.375}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8841000199317932},{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.7031999826431274},{"id":"https://openalex.org/C2778570526","wikidata":"https://www.wikidata.org/wiki/Q653197","display_name":"Rash","level":2,"score":0.5576000213623047},{"id":"https://openalex.org/C2777077863","wikidata":"https://www.wikidata.org/wiki/Q170990","display_name":"Arthritis","level":2,"score":0.5351999998092651},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4706999957561493},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.40950000286102295},{"id":"https://openalex.org/C2780955771","wikidata":"https://www.wikidata.org/wiki/Q183425","display_name":"Abdominal pain","level":2,"score":0.37869998812675476},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.3698999881744385},{"id":"https://openalex.org/C2776237595","wikidata":"https://www.wikidata.org/wiki/Q683498","display_name":"Joint pain","level":2,"score":0.3662000000476837},{"id":"https://openalex.org/C2781228260","wikidata":"https://www.wikidata.org/wiki/Q415411","display_name":"Anakinra","level":3,"score":0.3499000072479248},{"id":"https://openalex.org/C2777138892","wikidata":"https://www.wikidata.org/wiki/Q415264","display_name":"Infliximab","level":3,"score":0.33709999918937683},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.32820001244544983},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3240000009536743},{"id":"https://openalex.org/C2778674544","wikidata":"https://www.wikidata.org/wiki/Q1414805","display_name":"Systemic disease","level":3,"score":0.31529998779296875},{"id":"https://openalex.org/C2777226972","wikidata":"https://www.wikidata.org/wiki/Q415343","display_name":"Etanercept","level":3,"score":0.31450000405311584},{"id":"https://openalex.org/C2777165109","wikidata":"https://www.wikidata.org/wiki/Q388169","display_name":"Malar rash","level":5,"score":0.31060001254081726},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.31040000915527344},{"id":"https://openalex.org/C2777575956","wikidata":"https://www.wikidata.org/wiki/Q187255","display_name":"Rheumatoid arthritis","level":2,"score":0.3093999922275543},{"id":"https://openalex.org/C198451711","wikidata":"https://www.wikidata.org/wiki/Q327657","display_name":"Rheumatology","level":2,"score":0.30239999294281006},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.29580000042915344},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2939000129699707},{"id":"https://openalex.org/C2781304901","wikidata":"https://www.wikidata.org/wiki/Q4804182","display_name":"Aseptic meningitis","level":3,"score":0.2915000021457672},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29030001163482666},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.28200000524520874},{"id":"https://openalex.org/C2776821229","wikidata":"https://www.wikidata.org/wiki/Q16965166","display_name":"Inflammatory arthritis","level":3,"score":0.27810001373291016},{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.2759000062942505},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.26649999618530273},{"id":"https://openalex.org/C2778260677","wikidata":"https://www.wikidata.org/wiki/Q917447","display_name":"Inflammatory bowel disease","level":3,"score":0.2662999927997589},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.2606000006198883},{"id":"https://openalex.org/C2776670291","wikidata":"https://www.wikidata.org/wiki/Q1779300","display_name":"Connective tissue disease","level":4,"score":0.2581000030040741},{"id":"https://openalex.org/C2777788586","wikidata":"https://www.wikidata.org/wiki/Q2096745","display_name":"Hereditary angioedema","level":2,"score":0.2502000033855438}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.5409/wjcp.119428","doi":"https://doi.org/10.5409/wjcp.119428","is_oa":true,"landing_page_url":"https://doi.org/10.5409/wjcp.119428","pdf_url":"https://rcastoragev2.blob.core.windows.net/1bc8452a4589508c88aef6894b3e0428/PMC4251160.pdf","source":{"id":"https://openalex.org/S2738182854","display_name":"World Journal of Clinical Pediatrics","issn_l":"2219-2808","issn":["2219-2808"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World Journal of Clinical Pediatrics","raw_type":"journal-article"},{"id":"pmid:42626148","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42626148","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":"World journal of clinical pediatrics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13491080","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13491080/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World J Clin Pediatr","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.5409/wjcp.119428","doi":"https://doi.org/10.5409/wjcp.119428","is_oa":true,"landing_page_url":"https://doi.org/10.5409/wjcp.119428","pdf_url":"https://rcastoragev2.blob.core.windows.net/1bc8452a4589508c88aef6894b3e0428/PMC4251160.pdf","source":{"id":"https://openalex.org/S2738182854","display_name":"World Journal of Clinical Pediatrics","issn_l":"2219-2808","issn":["2219-2808"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World Journal of Clinical Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7171532223.pdf","grobid_xml":"https://content.openalex.org/works/W7171532223.grobid-xml"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W594828834","https://openalex.org/W1991602091","https://openalex.org/W1992328625","https://openalex.org/W2051978340","https://openalex.org/W2064656238","https://openalex.org/W2070588895","https://openalex.org/W2081823648","https://openalex.org/W2087083356","https://openalex.org/W2100998301","https://openalex.org/W2101548148","https://openalex.org/W2112706094","https://openalex.org/W2119998318","https://openalex.org/W2121837801","https://openalex.org/W2600016018","https://openalex.org/W2789948886","https://openalex.org/W2940679238","https://openalex.org/W2952544993","https://openalex.org/W2998511993","https://openalex.org/W3021502292","https://openalex.org/W3047710006","https://openalex.org/W3093455552","https://openalex.org/W3137503110","https://openalex.org/W3179657438","https://openalex.org/W4225163008","https://openalex.org/W4399702642"],"related_works":["https://openalex.org/W4401613889","https://openalex.org/W2553933622","https://openalex.org/W2463845667","https://openalex.org/W4400259370","https://openalex.org/W1987581874","https://openalex.org/W4399481777","https://openalex.org/W2211692470","https://openalex.org/W2121837801","https://openalex.org/W2609803522","https://openalex.org/W2319974403"],"abstract_inverted_index":{"BACKGROUND":[0],"The":[1,202],"TNFRSF1A":[2,63,92,127,140,174,287,472,507,536],"gene":[3,14,93,128,144,473],"encodes":[4],"TNFR1,":[5],"which":[6],"regulates":[7],"inflammation":[8],"and":[9,20,46,53,57,70,84,94,116,135,149,155,160,165,191,260,317,344,375,432,436,484,497,520,527],"apoptosis.":[10],"Variants":[11,469],"in":[12,206,270,470,533,553],"this":[13,554],"present":[15],"with":[16,62,90,104,114,217,286,351,434,495,535],"an":[17,32],"autoinflammatory":[18,35,143],"phenotype":[19],"are":[21,488],"linked":[22],"to":[23,509,544],"tumor":[24],"necrosis":[25],"factor":[26],"receptor":[27],"associated":[28,89],"periodic":[29],"syndrome":[30,232],"(TRAPS),":[31],"orphan":[33],"monogenic":[34],"disease":[36],"(AID)":[37],"that":[38,487],"can":[39],"mimic":[40],"systemic":[41],"juvenile":[42],"idiopathic":[43],"arthritis":[44],"(sJIA)":[45],"other":[47,142],"rheumatic":[48],"diseases.":[49],"Despite":[50],"known":[51],"mechanisms":[52],"classification":[54],"criteria,":[55],"diagnosing":[56],"choosing":[58],"therapy":[59,291,408,519],"for":[60,74,506],"patients":[61,76,113,221,272,285,350,383,390,411,494,539],"variants":[64,129,195,288,508],"remains":[65],"challenging.":[66],"Assessing":[67],"phenotypic":[68],"characteristics":[69],"considering":[71],"alternative":[72],"therapies":[73],"these":[75],"is":[77],"important.":[78],"AIM":[79],"To":[80],"evaluate":[81],"the":[82,91,471,548],"clinical":[83,480],"laboratory":[85],"features":[86],"of":[87,111,120,158,196,212,265,479,491,550],"sJIA":[88,121,499],"treatment":[95,150,551],"outcomes.":[96],"METHODS":[97],"A":[98,109],"single-center,":[99],"retrospective,":[100],"cross-sectional":[101],"cohort":[102],"study":[103],"longitudinal":[105],"follow-up":[106],"was":[107,209],"performed.":[108],"total":[110],"66":[112],"fever":[115,227,496],"a":[117,188,210,476],"referral":[118],"diagnosis":[119,457,516],"were":[122,152,200,268],"included:":[123],"33":[124,136,177],"(50%)":[125,137],"had":[126,138,181,187,194,222,281],"identified":[130,172,205],"by":[131,439],"molecular":[132,503],"genetic":[133,170,293,357,446,504],"testing,":[134],"no":[139],"or":[141,225,396,511],"variants.":[145,175,537],"Demographic,":[146],"clinical,":[147],"laboratory,":[148],"data":[151],"collected":[153],"before":[154,292,356,456],"after":[156,402,445],"verification":[157],"AID,":[159,381],"again":[161],"at":[162],"3,":[163],"6,":[164],"12":[166],"months.":[167],"RESULTS":[168],"Molecular":[169],"testing":[171,447,505],"several":[173],"Of":[176,325],"patients,":[178],"4":[179],"(12%)":[180],"likely":[182],"pathogenic":[183,189],"variants,":[184],"1":[185,372,376,426,429,433],"(3%)":[186],"variant,":[190],"3":[192,420],"(9.1%)":[193],"uncertain":[197,213],"significance;":[198],"all":[199,382,407,410],"heterozygous.":[201],"most":[203],"common,":[204],"27":[207],"(82%),":[208],"variant":[211],"significance":[214],"(c.362G>A,":[215],"p.Arg121Gln)":[216],"incomplete":[218],"penetrance.":[219],"These":[220],"paroxysmal":[223],"(48.5%)":[224],"continuous":[226],"(48.5%),":[228,308],"rash":[229],"(66.7%),":[230],"joint":[231],"(78.8%),":[233],"abdominal":[234],"pain":[235,244],"(33.3%),":[236,526],"gastrointestinal":[237,277],"symptoms":[238,500],"(27.2%),":[239],"eye":[240,483],"involvement":[241],"(24.2%),":[242],"chest":[243],"(12.1%),":[245],"hearing":[246],"loss":[247],"(9.1%),":[248,251],"periorbital":[249],"edema":[250],"arrested":[252],"development":[253],"(6.1%),":[254],"aseptic":[255],"meningitis":[256],"(3%),":[257,259,312,314,316],"hydrocephalus":[258],"amyloidosis":[261],"(3%).":[262],"Endoscopic":[263],"signs":[264],"intestinal":[266,282,485],"damage":[267],"found":[269],"20":[271],"(60.6%):":[273],"11":[274,417],"showed":[275],"upper":[276],"tract":[278],"issues;":[279],"9":[280,387],"pathology.":[283],"All":[284,493],"received":[289,330,384],"antirheumatic":[290,321],"testing.":[294],"Treatments":[295],"included":[296],"intravenous":[297,304],"glucocorticoids":[298],"(GC)":[299],"(45.5%),":[300,303],"oral":[301],"GC":[302,435],"immunoglobulin":[305],"(18.1%),":[306,310],"methotrexate":[307],"cyclosporine":[309],"azathioprine":[311],"mesalazine":[313],"sulfasalazine":[315],"biological":[318,385],"(b)":[319],"disease-modifying":[320],"drugs":[322,401],"(bDMARDs)":[323],"(72.7%).":[324],"those":[326,453],"on":[327,364,367,370,373,377,415,418,421,424,427,430,443],"bDMARDs,":[328],"39.4%":[329],"tocilizumab,":[331,365,416],"9.1%":[332],"abatacept,":[333],"6.1%":[334,336],"canakinumab,":[335,368,419],"infliximab,":[337,374],"3%":[338,340,342,345],"rituximab,":[339,431],"etanercept,":[341,425],"adalimumab,":[343,371,422],"certolizumab":[346],"pegol.":[347],"Among":[348],"24":[349],"three":[352],"prior":[353,404],"bDMARD":[354,542],"switches":[355,451,543],"diagnosis,":[358],"17":[359],"(70.8%)":[360],"achieved":[361,412,531],"remission:":[362,413],"7":[363,399],"6":[366],"2":[369,423],"rituximab.":[378],"After":[379,406],"confirming":[380],"therapy:":[386],"previously":[388],"untreated":[389],"started":[391,442],"canakinumab":[392,525],"(3),":[393,395],"tocilizumab":[394],"etanercept":[397],"(3);":[398],"switched":[400],"ineffective":[403],"therapy.":[405],"adjustments,":[409],"13":[414],"golimumab,":[428],"colchicine":[437],"followed":[438],"withdrawal.":[440],"Patients":[441],"bDMARDs":[444],"required":[448,540],"fewer":[449],"drug":[450],"than":[452],"treated":[454],"empirically":[455],"(0.23":[458],"\u00b1":[459,463],"0.42":[460],"vs":[461],"0.9":[462],"0.6,":[464],"P":[465],"=":[466],"0.001).":[467],"CONCLUSION":[468],"may":[474],"cause":[475],"wide":[477],"range":[478],"symptoms,":[481],"including":[482],"lesions":[486],"not":[489],"typical":[490],"sJIA.":[492],"unusual":[498],"should":[501],"have":[502],"confirm":[510],"exclude":[512],"AID":[513],"early.":[514],"Early":[515],"enables":[517],"timely":[518],"prevents":[521],"complications.":[522],"Tocilizumab":[523],"(39.3%),":[524],"TNF":[528],"inhibitors":[529],"(21.2%)":[530],"remission":[532],"children":[534],"Some":[538],"multiple":[541],"achieve":[545],"remission,":[546],"highlighting":[547],"complexity":[549],"decisions":[552],"group.":[555]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2026-07-29T00:00:00"}