{"id":"https://openalex.org/W4404437166","doi":"https://doi.org/10.1038/s41467-024-54345-4","title":"Defective kinase activity of IKK\u03b1 leads to combined immunodeficiency and disruption of immune tolerance in humans","display_name":"Defective kinase activity of IKK\u03b1 leads to combined immunodeficiency and disruption of immune tolerance in humans","publication_year":2024,"publication_date":"2024-11-16","ids":{"openalex":"https://openalex.org/W4404437166","doi":"https://doi.org/10.1038/s41467-024-54345-4","pmid":"https://pubmed.ncbi.nlm.nih.gov/39550372","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11569180"},"language":"en","primary_location":{"id":"doi:10.1038/s41467-024-54345-4","doi":"https://doi.org/10.1038/s41467-024-54345-4","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-024-54345-4","pdf_url":"https://www.nature.com/articles/s41467-024-54345-4.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41467-024-54345-4.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042397250","display_name":"G\u00f6khan Cildir","orcid":"https://orcid.org/0000-0001-7457-9164","observed_orcids":["https://orcid.org/0000-0001-7457-9164"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I170239107","display_name":"University of South Australia","ror":"https://ror.org/01p93h210","country_code":"AU","type":"education","lineage":["https://openalex.org/I170239107","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"G\u00f6khan Cildir","raw_affiliation_strings":["Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia"],"raw_orcid":"https://orcid.org/0000-0001-7457-9164","affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093265796","display_name":"\u00dcmran Aba","orcid":"https://orcid.org/0000-0001-9458-3953","observed_orcids":["https://orcid.org/0000-0001-9458-3953"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Umran Aba","raw_affiliation_strings":["Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","Department of Paediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0001-9458-3953","affiliations":[{"raw_affiliation_string":"Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Department of Paediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068029757","display_name":"Damla Pehlivan","orcid":"https://orcid.org/0000-0001-9328-8848","observed_orcids":["https://orcid.org/0000-0001-9328-8848","https://orcid.org/0009-0006-7022-1759"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Damla Pehlivan","raw_affiliation_strings":["Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084325183","display_name":"Denis Tvorogov","orcid":"https://orcid.org/0000-0002-2009-1347","observed_orcids":["https://orcid.org/0000-0002-2009-1347"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I170239107","display_name":"University of South Australia","ror":"https://ror.org/01p93h210","country_code":"AU","type":"education","lineage":["https://openalex.org/I170239107","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Denis Tvorogov","raw_affiliation_strings":["Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023652398","display_name":"Nicholas I. Warnock","orcid":"https://orcid.org/0000-0003-3422-3184","observed_orcids":["https://orcid.org/0000-0003-3422-3184"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I170239107","display_name":"University of South Australia","ror":"https://ror.org/01p93h210","country_code":"AU","type":"education","lineage":["https://openalex.org/I170239107","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Nicholas I. Warnock","raw_affiliation_strings":["Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","Data and Bioinformatics Innovation, Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia"],"raw_orcid":"https://orcid.org/0000-0003-3422-3184","affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852"]},{"raw_affiliation_string":"Data and Bioinformatics Innovation, Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093265797","display_name":"Canberk \u0130p\u015fir","orcid":"https://orcid.org/0000-0003-0726-5004","observed_orcids":["https://orcid.org/0000-0003-0726-5004"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Canberk Ipsir","raw_affiliation_strings":["Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","Department of Paediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-0726-5004","affiliations":[{"raw_affiliation_string":"Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Department of Paediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016223105","display_name":"Elif Ar\u0131k","orcid":"https://orcid.org/0000-0002-7319-8535","observed_orcids":["https://orcid.org/0000-0002-7319-8535"]},"institutions":[{"id":"https://openalex.org/I59738393","display_name":"Gaziantep University","ror":"https://ror.org/020vvc407","country_code":"TR","type":"education","lineage":["https://openalex.org/I59738393"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Elif Arik","raw_affiliation_strings":["Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I59738393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061012183","display_name":"Chung Hoow Kok","orcid":"https://orcid.org/0000-0002-3181-7852","observed_orcids":["https://orcid.org/0000-0002-3181-7852"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I170239107","display_name":"University of South Australia","ror":"https://ror.org/01p93h210","country_code":"AU","type":"education","lineage":["https://openalex.org/I170239107","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I5681781","display_name":"The University of Adelaide","ror":"https://ror.org/00892tw58","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444","https://openalex.org/I5681781"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Chung Hoow Kok","raw_affiliation_strings":["Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia","Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","Data and Bioinformatics Innovation, Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Adelaide Medical School, University of Adelaide, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I5681781"]},{"raw_affiliation_string":"Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852"]},{"raw_affiliation_string":"Data and Bioinformatics Innovation, Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114134356","display_name":"Ceren Bozkurt","orcid":"https://orcid.org/0000-0003-0009-5655","observed_orcids":["https://orcid.org/0000-0003-0009-5655","https://orcid.org/0000-0002-3982-0968"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ceren Bozkurt","raw_affiliation_strings":["Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103215139","display_name":"Sidem Didar Tekeoglu","orcid":"https://orcid.org/0000-0002-5748-2659","observed_orcids":["https://orcid.org/0000-0002-5748-2659"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Sidem Tekeoglu","raw_affiliation_strings":["Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114547705","display_name":"Gaye \u0130nal","orcid":"https://orcid.org/0000-0002-1019-7332","observed_orcids":["https://orcid.org/0000-0002-1019-7332"]},"institutions":[{"id":"https://openalex.org/I59738393","display_name":"Gaziantep University","ror":"https://ror.org/020vvc407","country_code":"TR","type":"education","lineage":["https://openalex.org/I59738393"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Gaye Inal","raw_affiliation_strings":["Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I59738393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051936631","display_name":"Mahmut Cesur","orcid":"https://orcid.org/0000-0001-9260-7587","observed_orcids":["https://orcid.org/0000-0001-9260-7587","https://orcid.org/0000-0003-2512-0183"]},"institutions":[{"id":"https://openalex.org/I59738393","display_name":"Gaziantep University","ror":"https://ror.org/020vvc407","country_code":"TR","type":"education","lineage":["https://openalex.org/I59738393"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mahmut Cesur","raw_affiliation_strings":["Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I59738393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050153557","display_name":"Ercan K\u00fc\u00e7\u00fckosmano\u011flu","orcid":"https://orcid.org/0000-0002-1824-2038","observed_orcids":["https://orcid.org/0000-0002-1824-2038"]},"institutions":[{"id":"https://openalex.org/I59738393","display_name":"Gaziantep University","ror":"https://ror.org/020vvc407","country_code":"TR","type":"education","lineage":["https://openalex.org/I59738393"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ercan Kucukosmanoglu","raw_affiliation_strings":["Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I59738393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114192571","display_name":"Ibrahim Karahan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I59738393","display_name":"Gaziantep University","ror":"https://ror.org/020vvc407","country_code":"TR","type":"education","lineage":["https://openalex.org/I59738393"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ibrahim Karahan","raw_affiliation_strings":["Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I59738393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010052410","display_name":"Berna Sava\u015f","orcid":"https://orcid.org/0000-0003-3971-1419","observed_orcids":["https://orcid.org/0000-0003-3971-1419"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Berna Savas","raw_affiliation_strings":["Department of Pathology, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055585829","display_name":"Deniz Balc\u0131","orcid":"https://orcid.org/0000-0002-6246-1123","observed_orcids":["https://orcid.org/0000-0002-6246-1123"]},"institutions":[{"id":"https://openalex.org/I128277893","display_name":"Bah\u00e7e\u015fehir University","ror":"https://ror.org/00yze4d93","country_code":"TR","type":"education","lineage":["https://openalex.org/I128277893"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Deniz Balci","raw_affiliation_strings":["Department of General Surgery and Organ Transplantation, Bahcesehir University School of Medicine, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of General Surgery and Organ Transplantation, Bahcesehir University School of Medicine, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I128277893"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007916565","display_name":"Ayhan S\u00fcmer Yaman","orcid":"https://orcid.org/0000-0001-9514-950X","observed_orcids":["https://orcid.org/0000-0001-9514-950X"]},"institutions":[{"id":"https://openalex.org/I4210121333","display_name":"Istinye University","ror":"https://ror.org/03081nz23","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210121333"]},{"id":"https://openalex.org/I4210153358","display_name":"Liv Hospital","ror":"https://ror.org/04fehsp44","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210153358"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ayhan Yaman","raw_affiliation_strings":["Pediatric Intensive Care Unit, Department of Pediatrics, Istinye University, Bahcesehir Liv Hospital, Istanbul, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Intensive Care Unit, Department of Pediatrics, Istinye University, Bahcesehir Liv Hospital, Istanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210121333","https://openalex.org/I4210153358"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104284719","display_name":"Nazl\u0131 Deveci Demirba\u015f","orcid":"https://orcid.org/0000-0002-3390-7798","observed_orcids":["https://orcid.org/0000-0002-3390-7798"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Nazli Deveci Demirba\u015f","raw_affiliation_strings":["Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046604520","display_name":"\u0130lhan Tezcan","orcid":"https://orcid.org/0000-0001-7257-4554","observed_orcids":["https://orcid.org/0000-0001-7257-4554"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ilhan Tezcan","raw_affiliation_strings":["Department of Paediatric Immunology, Hacettepe University Faculty of Medicine, \u0130hsan Do\u011framac\u0131 Children's Hospital, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Immunology, Hacettepe University Faculty of Medicine, \u0130hsan Do\u011framac\u0131 Children's Hospital, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114202828","display_name":"\u015eule Haskolo\u011flu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Sule Haskologlu","raw_affiliation_strings":["Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034423434","display_name":"Figen Do\u011fu","orcid":"https://orcid.org/0000-0002-7869-4941","observed_orcids":["https://orcid.org/0000-0002-7869-4941"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Figen Dogu","raw_affiliation_strings":["Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010556604","display_name":"Aydan \u0130kincio\u011fullar\u0131","orcid":"https://orcid.org/0000-0003-1145-0843","observed_orcids":["https://orcid.org/0000-0003-1145-0843"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Aydan Ikinciogullar\u0131","raw_affiliation_strings":["Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-1145-0843","affiliations":[{"raw_affiliation_string":"Department of Paediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101789069","display_name":"\u00d6zlem Keskin","orcid":"https://orcid.org/0000-0002-3061-7832","observed_orcids":["https://orcid.org/0000-0002-3061-7832"]},"institutions":[{"id":"https://openalex.org/I59738393","display_name":"Gaziantep University","ror":"https://ror.org/020vvc407","country_code":"TR","type":"education","lineage":["https://openalex.org/I59738393"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Ozlem Keskin","raw_affiliation_strings":["Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye. okeskin@gantep.edu.tr","Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye. okeskin@gantep.edu.tr","institution_ids":["https://openalex.org/I59738393"]},{"raw_affiliation_string":"Division of Paediatric Allergy and Immunology, Department of Paediatrics, Gaziantep University Faculty of Medicine, Gaziantep, T\u00fcrkiye","institution_ids":["https://openalex.org/I59738393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058540596","display_name":"Damon John Tumes","orcid":"https://orcid.org/0000-0001-5709-857X","observed_orcids":["https://orcid.org/0000-0001-5709-857X"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I170239107","display_name":"University of South Australia","ror":"https://ror.org/01p93h210","country_code":"AU","type":"education","lineage":["https://openalex.org/I170239107","https://openalex.org/I4405259444"]},{"id":"https://openalex.org/I4210140852","display_name":"Centre for Cancer Biology","ror":"https://ror.org/03yg7hz06","country_code":"AU","type":"facility","lineage":["https://openalex.org/I107656453","https://openalex.org/I4210140852","https://openalex.org/I4405259444"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Damon J. Tumes","raw_affiliation_strings":["Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia. Damon.Tumes@unisa.edu.au","Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia"],"raw_orcid":"https://orcid.org/0000-0001-5709-857X","affiliations":[{"raw_affiliation_string":"Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia. Damon.Tumes@unisa.edu.au","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852"]},{"raw_affiliation_string":"Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA 5000, Australia","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043115628","display_name":"Baran Erman","orcid":"https://orcid.org/0000-0001-9398-8465","observed_orcids":["https://orcid.org/0000-0001-9398-8465"]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Baran Erman","raw_affiliation_strings":["Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye. baranerman@gmail.com","Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye. baranerman@gmail.com","Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0001-9398-8465","affiliations":[{"raw_affiliation_string":"Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, T\u00fcrkiye. baranerman@gmail.com","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye. baranerman@gmail.com","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Institute of Child Health, Hacettepe University, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I66514158"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5043115628","https://openalex.org/A5058540596","https://openalex.org/A5101789069"],"corresponding_institution_ids":["https://openalex.org/I107656453","https://openalex.org/I170239107","https://openalex.org/I4210140852","https://openalex.org/I59738393","https://openalex.org/I66514158"],"apc_list":{"value":6790,"currency":"USD","value_usd":6790},"apc_paid":{"value":6790,"currency":"USD","value_usd":6790},"fwci":1.0477,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.71732424,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"15","issue":"1","first_page":"9944","last_page":"9944"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.82669997215271,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.82669997215271,"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/T11591","display_name":"NF-\u03baB Signaling Pathways","score":0.16779999434947968,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T12919","display_name":"Blood disorders and treatments","score":0.0006000000284984708,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/ikkalpha","display_name":"IKK\u03b1","score":0.9890000224113464},{"id":"https://openalex.org/keywords/kinase-activity","display_name":"kinase activity","score":0.5680000185966492},{"id":"https://openalex.org/keywords/combined-immunodeficiency","display_name":"combined immunodeficiency","score":0.8539999723434448},{"id":"https://openalex.org/keywords/immune-tolerance","display_name":"immune tolerance","score":0.7689999938011169},{"id":"https://openalex.org/keywords/non-canonical-nf-kappab-signaling","display_name":"non-canonical NF-\u03baB signaling","score":0.9470000267028809},{"id":"https://openalex.org/keywords/hypogammaglobulinemia","display_name":"hypogammaglobulinemia","score":0.9399999976158142},{"id":"https://openalex.org/keywords/autoreactivity","display_name":"autoreactivity","score":0.7329999804496765},{"id":"https://openalex.org/keywords/t-cell-receptor-diversity","display_name":"T cell receptor diversity","score":0.7319999933242798},{"id":"https://openalex.org/keywords/b-cell-receptor-diversity","display_name":"B cell receptor diversity","score":0.9869999885559082},{"id":"https://openalex.org/keywords/mucosa-associated-invariant-t-cells","display_name":"mucosal-associated invariant T cells","score":0.7170000076293945},{"id":"https://openalex.org/keywords/regulatory-t-cells","display_name":"regulatory T cells","score":0.9049999713897705},{"id":"https://openalex.org/keywords/t-follicular-helper-cells","display_name":"T follicular helper cells","score":0.6359999775886536},{"id":"https://openalex.org/keywords/natural-killer-cells","display_name":"natural killer cells","score":0.8309999704360962},{"id":"https://openalex.org/keywords/infection-susceptibility","display_name":"infection susceptibility","score":0.7139999866485596},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.5879999995231628}],"concepts":[{"id":"https://openalex.org/C100175707","wikidata":"https://www.wikidata.org/wiki/Q6103519","display_name":"I\u03baB kinase","level":4,"score":0.8218454718589783},{"id":"https://openalex.org/C184235292","wikidata":"https://www.wikidata.org/wiki/Q421851","display_name":"Kinase","level":2,"score":0.6426832675933838},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6027070879936218},{"id":"https://openalex.org/C32619005","wikidata":"https://www.wikidata.org/wiki/Q24768234","display_name":"Protein kinase domain","level":4,"score":0.5975214242935181},{"id":"https://openalex.org/C156155473","wikidata":"https://www.wikidata.org/wiki/Q18258483","display_name":"TANK-binding kinase 1","level":5,"score":0.5025153160095215},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4896417260169983},{"id":"https://openalex.org/C136449434","wikidata":"https://www.wikidata.org/wiki/Q428253","display_name":"Innate immune system","level":3,"score":0.43502774834632874},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.40121209621429443},{"id":"https://openalex.org/C137361374","wikidata":"https://www.wikidata.org/wiki/Q6714442","display_name":"MAP kinase kinase kinase","level":4,"score":0.3787018656730652},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.35553428530693054},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3173597455024719},{"id":"https://openalex.org/C2777730290","wikidata":"https://www.wikidata.org/wiki/Q411114","display_name":"NF-\u03baB","level":3,"score":0.30952876806259155},{"id":"https://openalex.org/C97029542","wikidata":"https://www.wikidata.org/wiki/Q281417","display_name":"Protein kinase A","level":3,"score":0.2542220950126648},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.16783380508422852},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09026205539703369}],"mesh":[{"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":"D006720","descriptor_name":"Homozygote","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":"D007108","descriptor_name":"Immune Tolerance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016328","descriptor_name":"NF-kappa B","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051550","descriptor_name":"I-kappa B Kinase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051550","descriptor_name":"I-kappa B Kinase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1038/s41467-024-54345-4","doi":"https://doi.org/10.1038/s41467-024-54345-4","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-024-54345-4","pdf_url":"https://www.nature.com/articles/s41467-024-54345-4.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-4023537/v1","doi":"https://doi.org/10.21203/rs.3.rs-4023537/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-4023537/v1","pdf_url":"https://www.researchsquare.com/article/rs-4023537/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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:11569180","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11569180","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11569180/pdf/41467_2024_Article_54345.pdf","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-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nat Commun","raw_type":"Text"},{"id":"pmid:39550372","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39550372","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":"Nature communications","raw_type":"Journal Article"},{"id":"pmh:oai:urm_publish:9916920928901831","doi":null,"is_oa":true,"landing_page_url":"https://find.library.unisa.edu.au/discovery/fulldisplay/alma9916920928901831/61USOUTHAUS_INST:ROR","pdf_url":null,"source":{"id":"https://openalex.org/S4306402528","display_name":"UniSA Research Outputs Repository (University of South Australia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170239107","host_organization_name":"University of South Australia","host_organization_lineage":["https://openalex.org/I170239107"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"text"},{"id":"pmh:oai:RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-54345-4","doi":null,"is_oa":false,"landing_page_url":"https://www.nature.com/articles/s41467-024-54345-4","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:0597148bba1341d8b736394bca958e1c","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/0597148bba1341d8b736394bca958e1c","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41467-024-54345-4","doi":"https://doi.org/10.1038/s41467-024-54345-4","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41467-024-54345-4","pdf_url":"https://www.nature.com/articles/s41467-024-54345-4.pdf","source":{"id":"https://openalex.org/S64187185","display_name":"Nature Communications","issn_l":"2041-1723","issn":["2041-1723"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G6873228688","display_name":"Elucidating the function of a novel regulator of IgE-mediated mast cell activation and chronic spontaneous urticaria development","funder_award_id":"2027602","funder_id":"https://openalex.org/F4320334705","funder_display_name":"National Health and Medical Research Council"},{"id":"https://openalex.org/G854282156","display_name":null,"funder_award_id":"2023-S-DTFA-003-QA25325","funder_id":"https://openalex.org/F4320311494","funder_display_name":"Hospital Research Foundation"},{"id":"https://openalex.org/G962594629","display_name":null,"funder_award_id":"121S667","funder_id":"https://openalex.org/F4320322626","funder_display_name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ft\u0131rma Kurumu"}],"funders":[{"id":"https://openalex.org/F4320311494","display_name":"Hospital Research Foundation","ror":"https://ror.org/043ae3f44"},{"id":"https://openalex.org/F4320322626","display_name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ft\u0131rma Kurumu","ror":"https://ror.org/04w9kkr77"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4404437166.pdf","grobid_xml":"https://content.openalex.org/works/W4404437166.grobid-xml"},"referenced_works_count":90,"referenced_works":["https://openalex.org/W1563940013","https://openalex.org/W1564210308","https://openalex.org/W1568067102","https://openalex.org/W1832300219","https://openalex.org/W1966376361","https://openalex.org/W1990089954","https://openalex.org/W1992320631","https://openalex.org/W2008663208","https://openalex.org/W2010495529","https://openalex.org/W2022078450","https://openalex.org/W2026484526","https://openalex.org/W2037385668","https://openalex.org/W2042681354","https://openalex.org/W2042872424","https://openalex.org/W2046895384","https://openalex.org/W2049114243","https://openalex.org/W2050309372","https://openalex.org/W2053242489","https://openalex.org/W2053372168","https://openalex.org/W2063830181","https://openalex.org/W2073145905","https://openalex.org/W2074787353","https://openalex.org/W2077669090","https://openalex.org/W2078774805","https://openalex.org/W2079426950","https://openalex.org/W2082710846","https://openalex.org/W2109356338","https://openalex.org/W2114104545","https://openalex.org/W2114843025","https://openalex.org/W2116173775","https://openalex.org/W2122294619","https://openalex.org/W2123586959","https://openalex.org/W2125180155","https://openalex.org/W2130410032","https://openalex.org/W2132540199","https://openalex.org/W2150183201","https://openalex.org/W2161444258","https://openalex.org/W2257197315","https://openalex.org/W2335650918","https://openalex.org/W2467278060","https://openalex.org/W2551968197","https://openalex.org/W2574819148","https://openalex.org/W2576779894","https://openalex.org/W2606604256","https://openalex.org/W2612196455","https://openalex.org/W2620769476","https://openalex.org/W2731230051","https://openalex.org/W2736847753","https://openalex.org/W2769313745","https://openalex.org/W2783766444","https://openalex.org/W2783783761","https://openalex.org/W2800077603","https://openalex.org/W2890021586","https://openalex.org/W2898730441","https://openalex.org/W2898789672","https://openalex.org/W2901765988","https://openalex.org/W2903358057","https://openalex.org/W2905452503","https://openalex.org/W2911922390","https://openalex.org/W2923669061","https://openalex.org/W2936956377","https://openalex.org/W2943533793","https://openalex.org/W2946173685","https://openalex.org/W2949683836","https://openalex.org/W2959493656","https://openalex.org/W2976155788","https://openalex.org/W3029661147","https://openalex.org/W3045427965","https://openalex.org/W3088256443","https://openalex.org/W3104285666","https://openalex.org/W3126160703","https://openalex.org/W3131643348","https://openalex.org/W3137342725","https://openalex.org/W3148064955","https://openalex.org/W3179715910","https://openalex.org/W3201453503","https://openalex.org/W3217049665","https://openalex.org/W4237288619","https://openalex.org/W4292506119","https://openalex.org/W4310010872","https://openalex.org/W4312187793","https://openalex.org/W4317600110","https://openalex.org/W4379376430","https://openalex.org/W4384408426","https://openalex.org/W4386944053","https://openalex.org/W4388488683","https://openalex.org/W4389010919","https://openalex.org/W4391230284","https://openalex.org/W7100088330","https://openalex.org/W7210294167"],"related_works":["https://openalex.org/W4406390114","https://openalex.org/W4395063624","https://openalex.org/W3201453503","https://openalex.org/W4410539739","https://openalex.org/W3131643348","https://openalex.org/W2125180155","https://openalex.org/W3034708480","https://openalex.org/W7097865423","https://openalex.org/W2139957642","https://openalex.org/W7124175401"],"abstract_inverted_index":{"IKK\u03b1":[0,28,158,197,200],"is":[1,62,77,174,201,213],"a":[2,50,101,123,156,221],"multifunctional":[3],"serine/threonine":[4],"kinase":[5,18,25,40,57,84,106,172,194,230],"that":[6,160,220],"controls":[7],"various":[8],"biological":[9],"processes,":[10],"either":[11],"dependent":[12],"on":[13],"or":[14],"independent":[15],"of":[16,23,27,59,82,108,114,125,132,140,148,170,185,196,205,211,233],"its":[17,39,229],"activity.":[19],"However,":[20,179],"the":[21,24,56,79,83,88,105,115,130,168,183,186,190,206,234],"importance":[22],"function":[26,195],"in":[29,55,64,78,162,166,198,225],"human":[30,177],"physiology":[31],"remains":[32],"unknown":[33],"since":[34],"no":[35],"biallelic":[36],"variants":[37],"disrupting":[38,228],"activity":[41,107,173,231],"have":[42],"been":[43],"reported.":[44],"In":[45],"this":[46],"study,":[47],"we":[48],"present":[49,63],"homozygous":[51,222],"germline":[52],"missense":[53,223],"variant":[54,159,224],"domain":[58,85],"IKK\u03b1,":[60,109],"which":[61,212],"three":[65],"children":[66],"from":[67],"two":[68],"Turkish":[69],"families.":[70],"This":[71],"variant,":[72],"referred":[73],"to":[74,111,239],"as":[75],"IKK\u03b1G167R,":[76],"activation":[80,113],"segment":[81],"and":[86,137,142,192,242],"affects":[87],"conserved":[89],"(DF/LG)":[90],"motif":[91],"responsible":[92],"for":[93,97],"coordinating":[94],"magnesium":[95],"atoms":[96],"ATP":[98],"binding.":[99],"As":[100],"result,":[102],"IKK\u03b1G167R":[103,121],"abolishes":[104],"leading":[110],"impaired":[112],"non-canonical":[116,235],"NF-\u03baB":[117,208,236],"pathway.":[118],"Patients":[119],"carrying":[120],"exhibit":[122],"range":[124],"immune":[126,187,244],"system":[127],"abnormalities,":[128],"including":[129],"absence":[131],"secondary":[133],"lymphoid":[134],"organs,":[135],"hypogammaglobulinemia":[136],"limited":[138],"diversity":[139],"T":[141],"B":[143],"cell":[144],"receptors":[145],"with":[146,176,215],"evidence":[147],"autoreactivity.":[149],"Overall,":[150],"our":[151],"findings":[152],"indicate":[153],"that,":[154],"unlike":[155],"nonsense":[157],"results":[161],"early":[163],"embryonic":[164],"lethality":[165],"humans,":[167,226],"deficiency":[169],"IKK\u03b1\u2018s":[171],"compatible":[175],"life.":[178,216],"it":[180],"significantly":[181],"disrupts":[182],"homeostasis":[184],"system,":[188],"underscoring":[189],"essential":[191,203],"non-redundant":[193],"humans.":[199],"an":[202],"regulator":[204],"noncanonical":[207],"signalling,":[209],"lack":[210],"incompatible":[214],"Here":[217],"authors":[218],"show":[219],"G167R,":[227],"upstream":[232],"pathway,":[237],"leads":[238],"disrupted":[240],"innate":[241],"adaptive":[243],"functions":[245],"while":[246],"largely":[247],"sparing":[248],"other":[249],"major":[250],"organ":[251],"systems.":[252]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":2}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2024-11-16T00:00:00"}
