{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T09:10:21Z","timestamp":1789722621486,"version":"4.0.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Allergy Asthma Clin Immunol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema. However many other clinical presentations lacking the triad above described have been reported what underpin the need of careful clinical suspicion, immunological evaluation and genetic sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here we report a case of a Brazilian boy with severe eczema as the first and only presentation requiring cyclosporin therapy. Progressive and cumulative symptoms of arthritis and enteropathy lead to the suspicion of an inborn error of immunity. Peripheral FOXP3 expression was normal (CD127\u2212\/CD4+\/CD25+\/FOXP3+\u2014396 cells\u201463%) and a pathogenic mutation in FOXP3 gene (c.1150G&gt;A; p.Ala384Thr), confirmed the diagnosis of IPEX syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>IPEX syndrome should be suspected in patients presenting with severe eczema associated or not with other autoimmune\/hyper inflammatory diseases in life. Our study also reinforces that FOXP3 expression by flowcytometry seems not to be a good screening method, and genetic sequencing is mandatory even in those with high suspicion and normal peripheral FOXP3 expression.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13223-022-00740-9","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T03:02:42Z","timestamp":1670814162000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo"],"prefix":"10.1186","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7533-1937","authenticated-orcid":false,"given":"Leonardo Oliveira","family":"Mendon\u00e7a","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana Pitchon","family":"dos Reis Chuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayra Barros","family":"Dorna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samar Freschi","family":"Barros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janaina Baptista","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Lucas","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana Campos","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Kalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myrthes Anna Maragna","family":"Toledo-Barros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina Maria","family":"Kokron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,12]]},"reference":[{"issue":"1","key":"740_CR1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1111\/nyas.13011","volume":"1417","author":"R Bacchetta","year":"2018","unstructured":"Bacchetta R, Barzaghi F, Roncarolo MG. From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation. Ann N Y Acad Sci. 2018;1417(1):5\u201322. https:\/\/doi.org\/10.1111\/nyas.13011.","journal-title":"Ann N Y Acad Sci"},{"key":"740_CR2","doi-asserted-by":"publisher","unstructured":"Park JH, Lee KH, Jeon B, Ochs HD, Lee JS, Gee HY, Seo S, Geum D, Piccirillo CA, Eisenhut M, van der Vliet HJ, Lee JM, Kronbichler A, Ko Y, Shin JI. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: a systematic review. Autoimmun Rev. 2020;19(6):102526. https:\/\/doi.org\/10.1016\/j.autrev.2020.102526","DOI":"10.1016\/j.autrev.2020.102526"},{"key":"740_CR3","doi-asserted-by":"publisher","unstructured":"Bachelerie M, Merlin E, Beltzung F, Franck F, Joubert J, Hall T, Fraitag S, D'Incan M. \u00c9rythrodermie r\u00e9v\u00e9latrice d\u2019un syndrome IPEX [Erythroderma revealing IPEX syndrome]. Ann Dermatol Venereol. 2019;146(12):807\u2013811. https:\/\/doi.org\/10.1016\/j.annder.2019.04.026","DOI":"10.1016\/j.annder.2019.04.026"},{"issue":"7","key":"740_CR4","doi-asserted-by":"publisher","first-page":"1683","DOI":"10.1007\/s10875-021-01092-6","volume":"41","author":"D Toyama","year":"2021","unstructured":"Toyama D, Hoshino A, Inoue K, Kamiya T, Kanegane H, Yamamoto S. Myelodysplastic syndrome in a patient with IPEX syndrome. J Clin Immunol. 2021;41(7):1683\u20135. https:\/\/doi.org\/10.1007\/s10875-021-01092-6.","journal-title":"J Clin Immunol"},{"issue":"2020","key":"740_CR5","doi-asserted-by":"publisher","first-page":"9860863","DOI":"10.1155\/2020\/9860863","volume":"9","author":"A Al Maawali","year":"2020","unstructured":"Al Maawali A, Derfalvi B, Van Limbergen J, Issekutz A, Issekutz T, Ghandourah H, Rashid M. IPEX syndrome with normal FOXP3 protein expression in Treg cells in an infant presenting with intractable diarrhea as a single symptom. 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Nat Genet. 2001;27(1):20\u20131. https:\/\/doi.org\/10.1038\/83713.","journal-title":"Nat Genet"}],"container-title":["Allergy, Asthma &amp; Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13223-022-00740-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13223-022-00740-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13223-022-00740-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T07:15:47Z","timestamp":1671088547000},"score":1,"resource":{"primary":{"URL":"https:\/\/aacijournal.biomedcentral.com\/articles\/10.1186\/s13223-022-00740-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,12]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["740"],"URL":"https:\/\/doi.org\/10.1186\/s13223-022-00740-9","relation":{},"ISSN":["1710-1492"],"issn-type":[{"value":"1710-1492","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,12]]},"assertion":[{"value":"22 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 November 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study is approved at the Hospital das Cl\u00ednicas, University of S\u00e3o Paulo, School of Medicine. The number of study approval is CAAE 74305817.0.0000.0068.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent for publication"}},{"value":"The authors declare no competing interest for the publication of this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"105"}}