{"id":"https://openalex.org/W2015797402","doi":"https://doi.org/10.1016/s0016-5085(10)61383-2","title":"S2012 Novel Mutations and Clinical Features in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome","display_name":"S2012 Novel Mutations and Clinical Features in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome","publication_year":2010,"publication_date":"2010-04-28","ids":{"openalex":"https://openalex.org/W2015797402","doi":"https://doi.org/10.1016/s0016-5085(10)61383-2","mag":"2015797402"},"language":"en","primary_location":{"id":"doi:10.1016/s0016-5085(10)61383-2","doi":"https://doi.org/10.1016/s0016-5085(10)61383-2","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","pdf_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","source":{"id":"https://openalex.org/S143352558","display_name":"Gastroenterology","issn_l":"0016-5085","issn":["0016-5085","1528-0012"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gastroenterology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084295670","display_name":"Crystal Knight","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Crystal Knight","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063016319","display_name":"Eleonora Gambineri","orcid":"https://orcid.org/0000-0002-4676-6541","observed_orcids":["https://orcid.org/0000-0002-4676-6541"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eleonora Gambineri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034179387","display_name":"Mary J. Hackett","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mary J. Hackett","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084937956","display_name":"Stephanie D. Anover-Sombke","orcid":"https://orcid.org/0000-0002-8530-8068","observed_orcids":["https://orcid.org/0000-0002-8530-8068"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stephanie Anover-Sombke","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062237763","display_name":"Hans D. Ochs","orcid":"https://orcid.org/0000-0002-7726-3218","observed_orcids":["https://orcid.org/0000-0002-7726-3218"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hans D. Ochs","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5071168848","display_name":"Troy R. Torgerson","orcid":"https://orcid.org/0000-0003-3489-5036","observed_orcids":["https://orcid.org/0000-0003-3489-5036"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Troy R. Torgerson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4180,"currency":"USD","value_usd":4180},"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"138","issue":"5","first_page":"S","last_page":"301"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9984999895095825,"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":0.9984999895095825,"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/T10031","display_name":"T-cell and B-cell Immunology","score":0.0010999999940395355,"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/ipex-syndrome","display_name":"IPEX syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/foxp3-mutations","display_name":"FOXP3 mutations","score":0.9300000071525574},{"id":"https://openalex.org/keywords/foxp3-gene","display_name":"FOXP3 gene","score":0.7649999856948853},{"id":"https://openalex.org/keywords/regulatory-t-cells","display_name":"regulatory T cells","score":0.6819999814033508},{"id":"https://openalex.org/keywords/autoimmune-enteropathy","display_name":"autoimmune enteropathy","score":0.8119999766349792},{"id":"https://openalex.org/keywords/type-1-diabetes","display_name":"type 1 diabetes","score":0.828000009059906},{"id":"https://openalex.org/keywords/polyendocrinopathy","display_name":"polyendocrinopathy","score":0.7480000257492065},{"id":"https://openalex.org/keywords/x-linked-immunodeficiency","display_name":"X-linked immunodeficiency","score":0.5979999899864197},{"id":"https://openalex.org/keywords/splicing-mutation","display_name":"splicing mutation","score":0.6759999990463257},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8840000033378601},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8970000147819519},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5490000247955322},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.5009999871253967},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6639999747276306}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.6738193035125732},{"id":"https://openalex.org/C2780194698","wikidata":"https://www.wikidata.org/wiki/Q6005429","display_name":"Immune dysregulation","level":3,"score":0.6695804595947266},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5131526589393616},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.49726513028144836},{"id":"https://openalex.org/C2780130043","wikidata":"https://www.wikidata.org/wiki/Q192360","display_name":"Autoimmunity","level":3,"score":0.42849260568618774},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3442384600639343},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2996777296066284},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26049673557281494},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1675022542476654},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.09758168458938599}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0016-5085(10)61383-2","doi":"https://doi.org/10.1016/s0016-5085(10)61383-2","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","pdf_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","source":{"id":"https://openalex.org/S143352558","display_name":"Gastroenterology","issn_l":"0016-5085","issn":["0016-5085","1528-0012"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gastroenterology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/s0016-5085(10)61383-2","doi":"https://doi.org/10.1016/s0016-5085(10)61383-2","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","pdf_url":"https://doi.org/10.1016/s0016-5085(10)61383-2","source":{"id":"https://openalex.org/S143352558","display_name":"Gastroenterology","issn_l":"0016-5085","issn":["0016-5085","1528-0012"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gastroenterology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2015797402.pdf","grobid_xml":"https://content.openalex.org/works/W2015797402.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2036429254","https://openalex.org/W1486722793","https://openalex.org/W7222821025","https://openalex.org/W2913139233","https://openalex.org/W2048503288","https://openalex.org/W2159487543","https://openalex.org/W3013799463","https://openalex.org/W2899915308","https://openalex.org/W3024562946","https://openalex.org/W1595583392"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2016-06-24T00:00:00"}
