{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:41:32Z","timestamp":1761986492697,"version":"3.40.5"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI11\/1086","PI14\/00405"],"award-info":[{"award-number":["PI11\/1086","PI14\/00405"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Ministry of Economy and Competitiveness","award":["BIO2012-40133"],"award-info":[{"award-number":["BIO2012-40133"]}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1016\/j.clim.2015.12.014","type":"journal-article","created":{"date-parts":[[2015,12,31]],"date-time":"2015-12-31T12:02:22Z","timestamp":1451563342000},"page":"60-65","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome"],"prefix":"10.1016","volume":"163","author":[{"given":"Roger","family":"Colobran","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"\u00c1lvarez de la Campa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0346-5570","authenticated-orcid":false,"given":"Pere","family":"Soler-Palac\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Mart\u00edn-Nalda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Pujol-Borrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"de la Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Mart\u00ednez-Gallo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2015.12.014_bb0005","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jmg.39.8.537","article-title":"Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome","volume":"39","author":"Wildin","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clim.2015.12.014_bb0010","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.clim.2014.12.007","article-title":"Fetal-onset IPEX: report of two families and review of literature","volume":"156","author":"Xavier-da-Silva","year":"2015","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.clim.2015.12.014_bb0015","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.clim.2015.09.006","article-title":"A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages","volume":"161","author":"Rae","year":"2015","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.clim.2015.12.014_bb0020","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/j.jaci.2010.05.021","article-title":"Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome","volume":"126","author":"Burroughs","year":"2010","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2015.12.014_bb0025","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1056\/NEJM200106073442304","article-title":"Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) by allogeneic bone marrow transplantation","volume":"344","author":"Baud","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2015.12.014_bb0030","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1146\/annurev.immunol.25.022106.141623","article-title":"Regulatory T cells: mechanisms of differentiation and function","volume":"30","author":"Josefowicz","year":"2012","journal-title":"Annu. Rev. Immunol."},{"key":"10.1016\/j.clim.2015.12.014_bb0035","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.1600-065X.2011.01018.x","article-title":"Regulatory T cells and foxp3","volume":"241","author":"Rudensky","year":"2011","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.clim.2015.12.014_bb0040","doi-asserted-by":"crossref","first-page":"211","DOI":"10.3389\/fimmu.2012.00211","article-title":"Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity","volume":"3","author":"Barzaghi","year":"2012","journal-title":"Front. Immunol."},{"key":"10.1016\/j.clim.2015.12.014_bb0045","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1053\/j.gastro.2007.02.044","article-title":"Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene","volume":"132","author":"Torgerson","year":"2007","journal-title":"Gastroenterology"},{"key":"10.1016\/j.clim.2015.12.014_bb0050","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.cgh.2005.12.014","article-title":"Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome","volume":"4","author":"De Benedetti","year":"2006","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"10.1016\/j.clim.2015.12.014_bb0055","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/jmedgenet-2012-100759","article-title":"The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome","volume":"49","author":"d'Hennezel","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clim.2015.12.014_bb0060","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1097\/MOP.0000000000000029","article-title":"Immune dysregulation, polyendocrinopathy, enteropathy, x-linked (IPEX) and ipex-related disorders: an evolving web of heritable autoimmune diseases","volume":"25","author":"Verbsky","year":"2013","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.clim.2015.12.014_bb0065","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1093\/intimm\/dxm043","article-title":"FOXP3 is a homo-oligomer and a component of a supramolecular regulatory complex disabled in the human XLAAD\/IPEX autoimmune disease","volume":"19","author":"Li","year":"2007","journal-title":"Int. Immunol."},{"key":"10.1016\/j.clim.2015.12.014_bb0070","doi-asserted-by":"crossref","first-page":"4571","DOI":"10.1073\/pnas.0700298104","article-title":"FOXP3 interactions with histone acetyltransferase and class II histone deacetylases are required for repression","volume":"104","author":"Li","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.clim.2015.12.014_bb0075","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.immuni.2011.02.017","article-title":"Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells","volume":"34","author":"Bandukwala","year":"2011","journal-title":"Immunity"},{"key":"10.1016\/j.clim.2015.12.014_bb0080","doi-asserted-by":"crossref","first-page":"3979","DOI":"10.1210\/jc.2007-0486","article-title":"Molecular basis of neonatal diabetes in Japanese patients","volume":"92","author":"Suzuki","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.clim.2015.12.014_bb0085","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1111\/j.1365-2133.2008.08835.x","article-title":"Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, x-linked (IPEX) syndrome","volume":"160","author":"Halabi-Tawil","year":"2009","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.clim.2015.12.014_bb0090","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/modpathol.2008.161","article-title":"Digestive histopathological presentation of IPEX syndrome","volume":"22","author":"Patey-Mariaud de Serre","year":"2009","journal-title":"Mod. Pathol."},{"key":"10.1016\/j.clim.2015.12.014_bb0095","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The foldx web server: an online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.clim.2015.12.014_bb0100","doi-asserted-by":"crossref","first-page":"9631","DOI":"10.1073\/pnas.0600225103","article-title":"The mutant leucine-zipper domain impairs both dimerization and suppressive function of foxp3 in T cells","volume":"103","author":"Chae","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.clim.2015.12.014_bb0105","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1021\/bi981495w","article-title":"Cavity-creating mutation at the dimer interface of plasmodium falciparum triosephosphate isomerase: restoration of stability by disulfide cross-linking of subunits","volume":"38","author":"Gopal","year":"1999","journal-title":"Biochemistry"},{"key":"10.1016\/j.clim.2015.12.014_bb0110","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1006\/jmbi.2001.5255","article-title":"Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties","volume":"315","author":"Ferrer-Costa","year":"2002","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.clim.2015.12.014_bb0115","first-page":"249","article-title":"Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles","volume":"4","author":"Riera","year":"2014","journal-title":"Wiley Interdisciplinary Reviews: Computational Molecular Science."},{"key":"10.1016\/j.clim.2015.12.014_bb0120","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3389\/fonc.2013.00294","article-title":"Searching for the Achilles heel of FOXP3","volume":"3","author":"Lozano","year":"2013","journal-title":"Front. Oncol."},{"key":"10.1016\/j.clim.2015.12.014_bb0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0008109","article-title":"Domain requirements and sequence specificity of DNA binding for the forkhead transcription factor FOXP3","volume":"4","author":"Koh","year":"2009","journal-title":"PLoS ONE"},{"key":"10.1016\/j.clim.2015.12.014_bb0130","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/83707","article-title":"X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy","volume":"27","author":"Wildin","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2015.12.014_bb0135","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.4049\/jimmunol.177.5.3133","article-title":"Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor","volume":"177","author":"Lopes","year":"2006","journal-title":"J. Immunol."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661615300838?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661615300838?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,16]],"date-time":"2018-09-16T08:22:43Z","timestamp":1537086163000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661615300838"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":27,"alternative-id":["S1521661615300838"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2015.12.014","relation":{},"ISSN":["1521-6616"],"issn-type":[{"type":"print","value":"1521-6616"}],"subject":[],"published":{"date-parts":[[2016,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2015.12.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}