{"id":"https://openalex.org/W1998905180","doi":"https://doi.org/10.1002/humu.1178","title":"Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED","display_name":"Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED","publication_year":2001,"publication_date":"2001-08-22","ids":{"openalex":"https://openalex.org/W1998905180","doi":"https://doi.org/10.1002/humu.1178","mag":"1998905180","pmid":"https://pubmed.ncbi.nlm.nih.gov/11524733"},"language":"en","primary_location":{"id":"doi:10.1002/humu.1178","doi":"https://doi.org/10.1002/humu.1178","is_oa":false,"landing_page_url":"https://doi.org/10.1002/humu.1178","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091135105","display_name":"Daniela \u010cih\u00e1kov\u00e1","orcid":"https://orcid.org/0000-0002-8713-2860","observed_orcids":["https://orcid.org/0000-0002-8713-2860"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210126318","display_name":"Tampere University Hospital","ror":"https://ror.org/02hvt5f17","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I4210126318"]},{"id":"https://openalex.org/I4387153886","display_name":"University of Tampere","ror":"https://ror.org/05p6qqk79","country_code":"FI","type":"education","lineage":["https://openalex.org/I166825849","https://openalex.org/I4387153886"]}],"countries":["CZ","FI"],"is_corresponding":false,"raw_author_name":"Daniela Cihakova","raw_affiliation_strings":["Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland","Department of Pediatrics, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland","institution_ids":["https://openalex.org/I4210126318","https://openalex.org/I4387153886"]},{"raw_affiliation_string":"Department of Pediatrics, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014066052","display_name":"Katarina Trebusak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I153976015","display_name":"University of Ljubljana","ror":"https://ror.org/05njb9z20","country_code":"SI","type":"education","lineage":["https://openalex.org/I153976015"]},{"id":"https://openalex.org/I2801323708","display_name":"Ljubljana University Medical Centre","ror":"https://ror.org/01nr6fy72","country_code":"SI","type":"healthcare","lineage":["https://openalex.org/I2801323708"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Katarina Trebusak","raw_affiliation_strings":["University Children\u2019s Hospital, Ljubljana, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Children\u2019s Hospital, Ljubljana, Slovenia","institution_ids":["https://openalex.org/I153976015","https://openalex.org/I2801323708"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045537354","display_name":"Maarit Heino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126318","display_name":"Tampere University Hospital","ror":"https://ror.org/02hvt5f17","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I4210126318"]},{"id":"https://openalex.org/I4387153886","display_name":"University of Tampere","ror":"https://ror.org/05p6qqk79","country_code":"FI","type":"education","lineage":["https://openalex.org/I166825849","https://openalex.org/I4387153886"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Maarit Heino","raw_affiliation_strings":["Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland","institution_ids":["https://openalex.org/I4210126318","https://openalex.org/I4387153886"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113966236","display_name":"Valentin Fadeyev","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"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Valentin Fadeyev","raw_affiliation_strings":["Department of Endocrinology, Sechenov Moscow Medical Academy, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, Sechenov Moscow Medical Academy, Moscow, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041588792","display_name":"Anatoly Nikolaevich Tiulpakov","orcid":"https://orcid.org/0000-0001-8500-4841","observed_orcids":["https://orcid.org/0000-0001-8500-4841"]},"institutions":[{"id":"https://openalex.org/I4210086852","display_name":"Endocrinology Research Center","ror":"https://ror.org/003pa2681","country_code":"RU","type":"facility","lineage":["https://openalex.org/I4210086852","https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Anatoly Tiulpakov","raw_affiliation_strings":["Pediatric Unit, Endocrinological Research Center, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Unit, Endocrinological Research Center, Moscow, Russia","institution_ids":["https://openalex.org/I4210086852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049778994","display_name":"Tadej Battelino","orcid":"https://orcid.org/0000-0002-0273-4732","observed_orcids":["https://orcid.org/0000-0002-0273-4732"]},"institutions":[{"id":"https://openalex.org/I153976015","display_name":"University of Ljubljana","ror":"https://ror.org/05njb9z20","country_code":"SI","type":"education","lineage":["https://openalex.org/I153976015"]},{"id":"https://openalex.org/I2801323708","display_name":"Ljubljana University Medical Centre","ror":"https://ror.org/01nr6fy72","country_code":"SI","type":"healthcare","lineage":["https://openalex.org/I2801323708"]}],"countries":["SI"],"is_corresponding":false,"raw_author_name":"Tadej Battelino","raw_affiliation_strings":["University Children\u2019s Hospital, Ljubljana, Slovenia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Children\u2019s Hospital, Ljubljana, Slovenia","institution_ids":["https://openalex.org/I153976015","https://openalex.org/I2801323708"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109901944","display_name":"Attila Tar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Attila Tar","raw_affiliation_strings":["Madarasz Children\u2019s Hospital, Budapest, Hungary"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Madarasz Children\u2019s Hospital, Budapest, Hungary","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027466496","display_name":"Zita Hal\u00e1sz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I101202996","display_name":"Semmelweis University","ror":"https://ror.org/01g9ty582","country_code":"HU","type":"education","lineage":["https://openalex.org/I101202996"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"Zita Hal\u00e1sz","raw_affiliation_strings":["Second Department of Pediatrics, Semmelweiss University, Budapest, Hungary"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Pediatrics, Semmelweiss University, Budapest, Hungary","institution_ids":["https://openalex.org/I101202996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053403269","display_name":"Peter Bl\u00fcmel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Peter Bl\u00fcmel","raw_affiliation_strings":["Prayerisches Kinderspital, Vienna, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prayerisches Kinderspital, Vienna, Austria","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Sameh Tawfik","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sameh Tawfik","raw_affiliation_strings":["Pediatrics Department, Maadi Hospital, Cairo, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics Department, Maadi Hospital, Cairo, Egypt","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110013684","display_name":"Kai J. E. Krohn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126318","display_name":"Tampere University Hospital","ror":"https://ror.org/02hvt5f17","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I4210126318"]},{"id":"https://openalex.org/I4387153886","display_name":"University of Tampere","ror":"https://ror.org/05p6qqk79","country_code":"FI","type":"education","lineage":["https://openalex.org/I166825849","https://openalex.org/I4387153886"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Kai Krohn","raw_affiliation_strings":["Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland","institution_ids":["https://openalex.org/I4210126318","https://openalex.org/I4387153886"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013583380","display_name":"Jan Lebl","orcid":"https://orcid.org/0000-0002-3365-5375","observed_orcids":["https://orcid.org/0000-0002-3365-5375"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Jan Lebl","raw_affiliation_strings":["Department of Pediatrics, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061747256","display_name":"P\u00e4rt Peterson","orcid":"https://orcid.org/0000-0001-6755-791X","observed_orcids":["https://orcid.org/0000-0001-6755-791X"]},"institutions":[{"id":"https://openalex.org/I4210126318","display_name":"Tampere University Hospital","ror":"https://ror.org/02hvt5f17","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I4210126318"]},{"id":"https://openalex.org/I4387153886","display_name":"University of Tampere","ror":"https://ror.org/05p6qqk79","country_code":"FI","type":"education","lineage":["https://openalex.org/I166825849","https://openalex.org/I4387153886"]}],"countries":["FI"],"is_corresponding":true,"raw_author_name":"P\u00e4rt Peterson","raw_affiliation_strings":["Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Technology, University of Tampere, Department of Pathology, Tampere University Hospital, Tampere, Finland","institution_ids":["https://openalex.org/I4210126318","https://openalex.org/I4387153886"]}]},{"author_position":"last","author":{"id":null,"display_name":"MEWPE-APECED Study Group","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"MEWPE-APECED Study Group","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5061747256"],"corresponding_institution_ids":["https://openalex.org/I4210126318","https://openalex.org/I4387153886"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":1.9868,"has_fulltext":false,"cited_by_count":94,"citation_normalized_percentile":{"value":0.86002895,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"18","issue":"3","first_page":"225","last_page":"232"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.8705999851226807,"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":0.8705999851226807,"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.12349999696016312,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/apeced","display_name":"APECED","score":0.9559999704360962},{"id":"https://openalex.org/keywords/aire-gene-mutation","display_name":"AIRE gene mutation","score":0.8980000019073486},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8109999895095825},{"id":"https://openalex.org/keywords/cytochrome-p450c17","display_name":"P450c17","score":0.9359999895095825},{"id":"https://openalex.org/keywords/p450c21","display_name":"P450c21","score":1.0},{"id":"https://openalex.org/keywords/p450scc","display_name":"P450scc","score":0.996999979019165},{"id":"https://openalex.org/keywords/humoral-autoimmunity","display_name":"humoral autoimmunity","score":0.7979999780654907}],"concepts":[{"id":"https://openalex.org/C2776566471","wikidata":"https://www.wikidata.org/wiki/Q2872459","display_name":"Autoimmune regulator","level":4,"score":0.8592777848243713},{"id":"https://openalex.org/C163764329","wikidata":"https://www.wikidata.org/wiki/Q785022","display_name":"Autoantibody","level":3,"score":0.8313956260681152},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6597055792808533},{"id":"https://openalex.org/C2779980618","wikidata":"https://www.wikidata.org/wiki/Q180152","display_name":"Vitiligo","level":2,"score":0.5815275311470032},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49135056138038635},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.47924044728279114},{"id":"https://openalex.org/C2780130043","wikidata":"https://www.wikidata.org/wiki/Q192360","display_name":"Autoimmunity","level":3,"score":0.4638535976409912},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.437644898891449},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4120848476886749},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.14518198370933533}],"mesh":[{"descriptor_ui":"D000096927","descriptor_name":"AIRE Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001323","descriptor_name":"Autoantibodies","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D003577","descriptor_name":"Cytochrome P-450 Enzyme System","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005060","descriptor_name":"Europe","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016884","descriptor_name":"Polyendocrinopathies, Autoimmune","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D016884","descriptor_name":"Polyendocrinopathies, Autoimmune","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016884","descriptor_name":"Polyendocrinopathies, Autoimmune","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.1178","doi":"https://doi.org/10.1002/humu.1178","is_oa":false,"landing_page_url":"https://doi.org/10.1002/humu.1178","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:11524733","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11524733","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G5157534273","display_name":null,"funder_award_id":"46066","funder_id":"https://openalex.org/F4320321108","funder_display_name":"Academy of Finland"},{"id":"https://openalex.org/G8936417308","display_name":null,"funder_award_id":"49024","funder_id":"https://openalex.org/F4320321108","funder_display_name":"Academy of Finland"}],"funders":[{"id":"https://openalex.org/F4320321108","display_name":"Academy of Finland","ror":"https://ror.org/05k73zm37"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W1600116166","https://openalex.org/W1971185090","https://openalex.org/W1974439470","https://openalex.org/W1988841577","https://openalex.org/W1989755312","https://openalex.org/W2017421022","https://openalex.org/W2028222510","https://openalex.org/W2028393908","https://openalex.org/W2034877810","https://openalex.org/W2038073696","https://openalex.org/W2049723400","https://openalex.org/W2050040308","https://openalex.org/W2060312395","https://openalex.org/W2061507519","https://openalex.org/W2063733110","https://openalex.org/W2082966751","https://openalex.org/W2083737302","https://openalex.org/W2095315030","https://openalex.org/W2106850730","https://openalex.org/W2109900674","https://openalex.org/W2125540086","https://openalex.org/W2128857363","https://openalex.org/W2130784093","https://openalex.org/W2149413915","https://openalex.org/W2314225431","https://openalex.org/W2331919277"],"related_works":["https://openalex.org/W2032549551","https://openalex.org/W2064175693","https://openalex.org/W2109900674","https://openalex.org/W2004760776","https://openalex.org/W1972152853","https://openalex.org/W2554974808","https://openalex.org/W4205787330","https://openalex.org/W2031529855","https://openalex.org/W2163767652","https://openalex.org/W2049390543"],"abstract_inverted_index":{"Autoimmune":[0],"polyendocrinopathy-candidiasis-ectodermal":[1],"dystrophy":[2],"(APECED)":[3],"is":[4],"a":[5,122],"rare":[6],"recessive":[7],"disorder":[8],"that":[9,116,154],"results":[10],"in":[11,19,56,106,127,148],"several":[12,28,128],"autoimmune":[13,29],"diseases":[14],"due":[15],"to":[16,40,136,169],"the":[17,20,36,45,57,63,110,141,149,160],"mutations":[18,52,88],"AIRE":[21,58],"(autoimmune":[22],"regulator)":[23],"gene.":[24,59],"APECED":[25,70,85,105,151,165],"patients":[26,71,152,166],"develop":[27],"endocrine":[30],"disorders":[31],"and":[32,65,74,78,124,157,162,172],"are":[33,98],"characterized":[34],"by":[35,140],"high":[37],"titer":[38],"autoantibodies":[39,168],"organ-specific":[41],"antigens":[42,147],"such":[43],"as":[44,121],"steroidogenic":[46,137],"P450":[47,138],"cytochromes.":[48],"So":[49],"far,":[50],"38":[51],"have":[53],"been":[54,118],"identified":[55],"We":[60],"report":[61],"here":[62],"genetic":[64],"autoantibody":[66],"analysis":[67,132],"of":[68,72,92,112,133,143,159],"27":[69],"Eastern":[73,161],"Central":[75,163],"European":[76,164],"origins":[77],"one":[79],"Egyptian":[80],"patient.":[81],"From":[82],"54":[83],"analyzed":[84],"chromosomes,":[86],"eight":[87],"were":[89],"detected,":[90],"four":[91],"which":[93],"(T16M,":[94],"W78R,":[95],"IVS1_IVS4,":[96],"30-53dup23bp)":[97],"novel.":[99],"The":[100,131],"most":[101],"prevalent":[102],"reason":[103],"for":[104],"these":[107],"populations":[108],"was":[109],"occurrence":[111],"R257X":[113],"(36":[114],"chromosomes)":[115],"has":[117],"described":[119],"earlier":[120],"common":[123],"recurrent":[125],"mutation":[126],"other":[129],"populations.":[130],"humoral":[134],"immunity":[135],"cytochromes":[139],"immunoblotting":[142],"E.":[144],"coli":[145],"expressed":[146],"18":[150],"showed":[153],"67%,":[155],"44%,":[156],"61%":[158],"had":[167],"P450c17,":[170],"P450c21,":[171],"P450scc,":[173],"respectively.":[174]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}