{"id":"https://openalex.org/W2991279235","doi":"https://doi.org/10.1016/j.jaci.2019.11.028","title":"Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder","display_name":"Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder","publication_year":2019,"publication_date":"2019-12-02","ids":{"openalex":"https://openalex.org/W2991279235","doi":"https://doi.org/10.1016/j.jaci.2019.11.028","mag":"2991279235","pmid":"https://pubmed.ncbi.nlm.nih.gov/31805313"},"language":"en","primary_location":{"id":"doi:10.1016/j.jaci.2019.11.028","doi":"https://doi.org/10.1016/j.jaci.2019.11.028","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jaci.2019.11.028","pdf_url":null,"source":{"id":"https://openalex.org/S108525051","display_name":"Journal of Allergy and Clinical Immunology","issn_l":"0091-6749","issn":["0091-6749","1085-8725","1097-6825"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"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":"Journal of Allergy and Clinical Immunology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.jaci.2019.11.028","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062505942","display_name":"Jeong Seok Lee","orcid":"https://orcid.org/0000-0001-8261-7044","observed_orcids":["https://orcid.org/0000-0001-8261-7044"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]},{"id":"https://openalex.org/I157485424","display_name":"Korea Advanced Institute of Science and Technology","ror":"https://ror.org/05apxxy63","country_code":"KR","type":"education","lineage":["https://openalex.org/I157485424"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jeong Seok Lee","raw_affiliation_strings":["Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea","Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea","Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I139264467","https://openalex.org/I157485424"]},{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I157485424"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042703505","display_name":"Yohan An","orcid":"https://orcid.org/0000-0001-7560-769X","observed_orcids":["https://orcid.org/0000-0001-7560-769X"]},"institutions":[{"id":"https://openalex.org/I157485424","display_name":"Korea Advanced Institute of Science and Technology","ror":"https://ror.org/05apxxy63","country_code":"KR","type":"education","lineage":["https://openalex.org/I157485424"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Yohan An","raw_affiliation_strings":["Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I157485424"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108061376","display_name":"Sung-Soo Yoon","orcid":"https://orcid.org/0000-0001-5714-7087","observed_orcids":["https://orcid.org/0000-0001-5714-7087"]},"institutions":[{"id":"https://openalex.org/I157485424","display_name":"Korea Advanced Institute of Science and Technology","ror":"https://ror.org/05apxxy63","country_code":"KR","type":"education","lineage":["https://openalex.org/I157485424"]},{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["KR","US"],"is_corresponding":false,"raw_author_name":"Christopher J. Yoon","raw_affiliation_strings":["Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea; Department of Medicine, Washington University in St Louis, St Louis, Mo","Department of Medicine, Washington University in St Louis, St Louis, Mo","Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea; Department of Medicine, Washington University in St Louis, St Louis, Mo","institution_ids":["https://openalex.org/I157485424","https://openalex.org/I204465549"]},{"raw_affiliation_string":"Department of Medicine, Washington University in St Louis, St Louis, Mo","institution_ids":["https://openalex.org/I204465549"]},{"raw_affiliation_string":"Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea","institution_ids":["https://openalex.org/I157485424"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100758803","display_name":"Jeong Yeon Kim","orcid":"https://orcid.org/0000-0002-7786-841X","observed_orcids":["https://orcid.org/0000-0002-7786-841X"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jeong Yeon Kim","raw_affiliation_strings":["Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100635020","display_name":"Kyung Hwan Kim","orcid":"https://orcid.org/0000-0002-6713-1350","observed_orcids":["https://orcid.org/0000-0002-6713-1350"]},"institutions":[{"id":"https://openalex.org/I157485424","display_name":"Korea Advanced Institute of Science and Technology","ror":"https://ror.org/05apxxy63","country_code":"KR","type":"education","lineage":["https://openalex.org/I157485424"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Kyung Hwan Kim","raw_affiliation_strings":["Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I157485424"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063867007","display_name":"Alexandra F. Freeman","orcid":"https://orcid.org/0000-0001-7005-8345","observed_orcids":["https://orcid.org/0000-0001-7005-8345"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexandra F. Freeman","raw_affiliation_strings":["Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070963664","display_name":"Jae\u2010Joon Yim","orcid":"https://orcid.org/0000-0002-9605-0074","observed_orcids":["https://orcid.org/0000-0002-9605-0074"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jae-Joon Yim","raw_affiliation_strings":["Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014171582","display_name":"Eui\u2010Cheol Shin","orcid":"https://orcid.org/0000-0002-6308-9503","observed_orcids":["https://orcid.org/0000-0002-6308-9503","https://orcid.org/0000-0001-6783-813X"]},"institutions":[{"id":"https://openalex.org/I157485424","display_name":"Korea Advanced Institute of Science and Technology","ror":"https://ror.org/05apxxy63","country_code":"KR","type":"education","lineage":["https://openalex.org/I157485424"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Eui-Cheol Shin","raw_affiliation_strings":["Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I157485424"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056552919","display_name":"Steven M. Holland","orcid":"https://orcid.org/0000-0003-3207-5464","observed_orcids":["https://orcid.org/0000-0003-3207-5464"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210134534","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Steven M. Holland","raw_affiliation_strings":["Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210134534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100419666","display_name":"Eun Young Lee","orcid":"https://orcid.org/0000-0001-6975-8627","observed_orcids":["https://orcid.org/0000-0001-6975-8627","https://orcid.org/0009-0006-4317-5742","https://orcid.org/0000-0001-8261-7044"]},"institutions":[{"id":"https://openalex.org/I139264467","display_name":"Seoul National University","ror":"https://ror.org/04h9pn542","country_code":"KR","type":"education","lineage":["https://openalex.org/I139264467"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Eun Young Lee","raw_affiliation_strings":["Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. Electronic address: elee@snu.ac.kr","Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. Electronic address: elee@snu.ac.kr","institution_ids":["https://openalex.org/I139264467"]},{"raw_affiliation_string":"Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I139264467"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049364024","display_name":"Young Seok Ju","orcid":"https://orcid.org/0000-0002-5514-4189","observed_orcids":["https://orcid.org/0000-0002-5514-4189"]},"institutions":[{"id":"https://openalex.org/I157485424","display_name":"Korea Advanced Institute of Science and Technology","ror":"https://ror.org/05apxxy63","country_code":"KR","type":"education","lineage":["https://openalex.org/I157485424"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Young Seok Ju","raw_affiliation_strings":["Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address: ysju@kaist.ac.kr","Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea","Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address: ysju@kaist.ac.kr","institution_ids":["https://openalex.org/I157485424"]},{"raw_affiliation_string":"Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I157485424"]},{"raw_affiliation_string":"Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea","institution_ids":["https://openalex.org/I157485424"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5049364024","https://openalex.org/A5100419666"],"corresponding_institution_ids":["https://openalex.org/I139264467","https://openalex.org/I157485424"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":{"value":3550,"currency":"USD","value_usd":3550},"fwci":0.5962,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.62729836,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"145","issue":"3","first_page":"1017","last_page":"1021"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":1.0,"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":1.0,"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/T11503","display_name":"Cytokine Signaling Pathways and Interactions","score":0.0,"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/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.0,"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/stat1","display_name":"STAT1","score":0.902999997138977},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.9670000076293945},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.8370000123977661},{"id":"https://openalex.org/keywords/somatic-mosaicism","display_name":"somatic mosaicism","score":0.9480000138282776},{"id":"https://openalex.org/keywords/ipex-syndrome","display_name":"IPEX syndrome","score":0.7919999957084656},{"id":"https://openalex.org/keywords/chronic-mucocutaneous-candidiasis","display_name":"chronic mucocutaneous candidiasis","score":0.9049999713897705},{"id":"https://openalex.org/keywords/stat1-phosphorylation","display_name":"STAT1 phosphorylation","score":0.746999979019165},{"id":"https://openalex.org/keywords/immune-dysfunction","display_name":"immune dysfunction","score":0.39500001072883606}],"concepts":[{"id":"https://openalex.org/C2780194698","wikidata":"https://www.wikidata.org/wiki/Q6005429","display_name":"Immune dysregulation","level":3,"score":0.7256603837013245},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.5977312326431274},{"id":"https://openalex.org/C2779727006","wikidata":"https://www.wikidata.org/wiki/Q426188","display_name":"FOXP3","level":3,"score":0.5350096821784973},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.5125455856323242},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.49508967995643616},{"id":"https://openalex.org/C2777003663","wikidata":"https://www.wikidata.org/wiki/Q14912030","display_name":"STAT1","level":3,"score":0.47515222430229187},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.42112189531326294},{"id":"https://openalex.org/C2780237676","wikidata":"https://www.wikidata.org/wiki/Q18052115","display_name":"BTLA","level":4,"score":0.4158400297164917},{"id":"https://openalex.org/C167672396","wikidata":"https://www.wikidata.org/wiki/Q417800","display_name":"CD8","level":3,"score":0.41520053148269653},{"id":"https://openalex.org/C2780366003","wikidata":"https://www.wikidata.org/wiki/Q246147","display_name":"Cytopenia","level":3,"score":0.41334787011146545},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3301665782928467},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32788580656051636},{"id":"https://openalex.org/C2776090121","wikidata":"https://www.wikidata.org/wiki/Q193529","display_name":"T cell","level":3,"score":0.3010280430316925},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.21803587675094604},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.14475226402282715}],"mesh":[{"descriptor_ui":"D000073659","descriptor_name":"Gain of Function Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003922","descriptor_name":"Diabetes Mellitus, Type 1","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D003922","descriptor_name":"Diabetes Mellitus, Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003967","descriptor_name":"Diarrhea","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007154","descriptor_name":"Immune System Diseases","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D007154","descriptor_name":"Immune System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050794","descriptor_name":"STAT1 Transcription Factor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.jaci.2019.11.028","doi":"https://doi.org/10.1016/j.jaci.2019.11.028","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jaci.2019.11.028","pdf_url":null,"source":{"id":"https://openalex.org/S108525051","display_name":"Journal of Allergy and Clinical Immunology","issn_l":"0091-6749","issn":["0091-6749","1085-8725","1097-6825"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"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":"Journal of Allergy and Clinical Immunology","raw_type":"journal-article"},{"id":"pmid:31805313","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31805313","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":"The Journal of allergy and clinical immunology","raw_type":"Case Reports"},{"id":"pmh:oai:s-space.snu.ac.kr:10371/206033","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/10371/206033","pdf_url":null,"source":{"id":"https://openalex.org/S4306401345","display_name":"Seoul National University Open Repository (Seoul National University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I139264467","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/I139264467"],"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"}],"best_oa_location":{"id":"doi:10.1016/j.jaci.2019.11.028","doi":"https://doi.org/10.1016/j.jaci.2019.11.028","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jaci.2019.11.028","pdf_url":null,"source":{"id":"https://openalex.org/S108525051","display_name":"Journal of Allergy and Clinical Immunology","issn_l":"0091-6749","issn":["0091-6749","1085-8725","1097-6825"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"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":"Journal of Allergy and Clinical Immunology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4794659301","display_name":null,"funder_award_id":"HI14C1277","funder_id":"https://openalex.org/F4320322034","funder_display_name":"Ministry of Health and Welfare"},{"id":"https://openalex.org/G8525418649","display_name":null,"funder_award_id":"HI17C1836","funder_id":"https://openalex.org/F4320322034","funder_display_name":"Ministry of Health and Welfare"}],"funders":[{"id":"https://openalex.org/F4320322034","display_name":"Ministry of Health and Welfare","ror":"https://ror.org/00vxgjw72"},{"id":"https://openalex.org/F4320322107","display_name":"Korea Health Industry Development Institute","ror":"https://ror.org/00fdzyk40"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1629158096","https://openalex.org/W2075944172","https://openalex.org/W2098267826","https://openalex.org/W2114043064","https://openalex.org/W2134194869","https://openalex.org/W2256016639","https://openalex.org/W2467020097","https://openalex.org/W2603764892","https://openalex.org/W2622876879","https://openalex.org/W3199951778"],"related_works":["https://openalex.org/W2049954246","https://openalex.org/W2098267826","https://openalex.org/W4309848498","https://openalex.org/W2984561963","https://openalex.org/W2754728214","https://openalex.org/W6987616786","https://openalex.org/W7100308084","https://openalex.org/W4392560425","https://openalex.org/W2886181943","https://openalex.org/W3135069218"],"abstract_inverted_index":{"Gain-of-function":[0],"(GoF)":[1],"mutations":[2,25,43,72],"of":[3,8,36,49,59],"signal":[4],"transducer":[5],"and":[6,56],"activator":[7],"transcription":[9],"1":[10],"(STAT1)":[11],"cause":[12],"broad":[13],"immune":[14,22],"dysfunction":[15],"ranging":[16],"from":[17],"simple":[18,74],"immunodeficiency":[19],"to":[20,45],"complex":[21],"disorders.1":[23],"These":[24],"are":[26],"frequently":[27],"enriched":[28],"in":[29],"the":[30,46],"coiled-coil":[31],"domain":[32,35],"or":[33],"DNA-binding":[34],"STAT1":[37,41,70],"(Fig":[38,81],"1,":[39,82],"A).2,3":[40],"GoF":[42,71],"lead":[44],"uncontrolled":[47],"phosphorylation":[48],"STAT1,":[50],"which":[51],"disrupts":[52],"STAT1-dependent":[53],"clonal":[54],"expansion":[55],"memory":[57],"formation":[58],"CD8+":[60],"T":[61],"cells.4,5":[62],"The":[63],"most":[64],"frequent":[65],"clinical":[66],"phenotype":[67],"induced":[68],"by":[69],"is":[73],"immunodeficiency,":[75],"for":[76],"example,":[77],"chronic":[78],"mucocutaneous":[79],"candidiasis":[80],"B).":[83]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-12-05T00:00:00"}