{"id":"https://openalex.org/W2048503288","doi":"https://doi.org/10.1016/j.jaci.2008.12.552","title":"Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome","display_name":"Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome","publication_year":2009,"publication_date":"2009-02-01","ids":{"openalex":"https://openalex.org/W2048503288","doi":"https://doi.org/10.1016/j.jaci.2008.12.552","mag":"2048503288"},"language":"en","primary_location":{"id":"doi:10.1016/j.jaci.2008.12.552","doi":"https://doi.org/10.1016/j.jaci.2008.12.552","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jaci.2008.12.552","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":null,"license_id":null,"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"],"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/A5063016319","display_name":"Eleonora Gambineri","orcid":"https://orcid.org/0000-0002-4676-6541","observed_orcids":["https://orcid.org/0000-0002-4676-6541"]},"institutions":[{"id":"https://openalex.org/I4210113625","display_name":"Meyer Children's Hospital","ror":"https://ror.org/01n2xwm51","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210113625"]},{"id":"https://openalex.org/I45084792","display_name":"University of Florence","ror":"https://ror.org/04jr1s763","country_code":"IT","type":"education","lineage":["https://openalex.org/I45084792"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E. Gambineri","raw_affiliation_strings":["University of Florence, Dept of Pediatrics-\"Anna Meyer\" Children's Hospital, Florence, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Florence, Dept of Pediatrics-\"Anna Meyer\" Children's Hospital, Florence, Italy","institution_ids":["https://openalex.org/I4210113625","https://openalex.org/I45084792"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034179387","display_name":"Mary J. Hackett","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Hackett","raw_affiliation_strings":["Children's Hospital Regional Medical Center, Seattle, WA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Regional Medical Center, Seattle, WA","institution_ids":["https://openalex.org/I1295499534"]}]},{"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":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. A\u00f1over","raw_affiliation_strings":["Children's Hospital Regional Medical Center, Seattle, WA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Regional Medical Center, Seattle, WA","institution_ids":["https://openalex.org/I1295499534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067557904","display_name":"Qili Zhu","orcid":"https://orcid.org/0000-0002-4083-489X","observed_orcids":["https://orcid.org/0000-0002-4083-489X"]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Q. Zhu","raw_affiliation_strings":["Children's Hospital Regional Medical Center, Seattle, WA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Regional Medical Center, Seattle, WA","institution_ids":["https://openalex.org/I1295499534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041446543","display_name":"Elizabeth Ocheltree","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E. Ocheltree","raw_affiliation_strings":["Children's Hospital Regional Medical Center, Seattle, WA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Regional Medical Center, Seattle, WA","institution_ids":["https://openalex.org/I1295499534"]}]},{"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":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H.D. Ochs","raw_affiliation_strings":["University of Washington & Children's Hospital Regional Medical Center, Seattle, WA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington & Children's Hospital Regional Medical Center, Seattle, WA","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]},{"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":[{"id":"https://openalex.org/I1295499534","display_name":"Seattle Children's Hospital","ror":"https://ror.org/01njes783","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1295499534"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T.R. Torgerson","raw_affiliation_strings":["University of Washington & Children's Hospital Regional Medical Center, Seattle, WA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington & Children's Hospital Regional Medical Center, Seattle, WA","institution_ids":["https://openalex.org/I1295499534","https://openalex.org/I201448701"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4900,"currency":"USD","value_usd":4900},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.18902941,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"123","issue":"2","first_page":"S148","last_page":"S148"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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":0.0007999999797903001,"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":0.0,"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":0.9850000143051147},{"id":"https://openalex.org/keywords/foxp3-mutations","display_name":"FOXP3 mutations","score":0.9240000247955322},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.5400000214576721},{"id":"https://openalex.org/keywords/elevated-ige","display_name":"elevated IgE","score":0.5879999995231628},{"id":"https://openalex.org/keywords/autoimmune-enteropathy","display_name":"autoimmune enteropathy","score":0.6899999976158142},{"id":"https://openalex.org/keywords/endocrine-disorders","display_name":"endocrine disorders","score":0.8190000057220459},{"id":"https://openalex.org/keywords/regulatory-elements","display_name":"regulatory elements","score":0.4090000092983246},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8840000033378601},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5910000205039978}],"concepts":[{"id":"https://openalex.org/C2778426112","wikidata":"https://www.wikidata.org/wiki/Q3055380","display_name":"Enteropathy","level":3,"score":0.8371208906173706},{"id":"https://openalex.org/C2780194698","wikidata":"https://www.wikidata.org/wiki/Q6005429","display_name":"Immune dysregulation","level":3,"score":0.7807632088661194},{"id":"https://openalex.org/C2779727006","wikidata":"https://www.wikidata.org/wiki/Q426188","display_name":"FOXP3","level":3,"score":0.6441400647163391},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5938305854797363},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5786681771278381},{"id":"https://openalex.org/C2780130043","wikidata":"https://www.wikidata.org/wiki/Q192360","display_name":"Autoimmunity","level":3,"score":0.48910337686538696},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.41281864047050476},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3751492202281952},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3283533453941345},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23032650351524353},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.21200254559516907},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21144941449165344},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.18290162086486816}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.jaci.2008.12.552","doi":"https://doi.org/10.1016/j.jaci.2008.12.552","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jaci.2008.12.552","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Allergy and Clinical Immunology","raw_type":"journal-article"},{"id":"pmh:oai:flore.unifi.it:2158/781274","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2158/781274","pdf_url":null,"source":{"id":"https://openalex.org/S4306402033","display_name":"Florence Research (University of Florence)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45084792","host_organization_name":"University of Florence","host_organization_lineage":["https://openalex.org/I45084792"],"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":"info:eu-repo/semantics/conferenceObject"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2107822331","https://openalex.org/W2898668831","https://openalex.org/W2015797402","https://openalex.org/W1595583392","https://openalex.org/W2167679377","https://openalex.org/W2159487543","https://openalex.org/W7207716202","https://openalex.org/W2609229304","https://openalex.org/W2094430543","https://openalex.org/W3013799463"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}