Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMENDONCA, Leonardo Oliveira
dc.contributor.authorCHUSTER, Adriana Pitchon dos Reis
dc.contributor.authorDORNA, Mayra Barros
dc.contributor.authorBARROS, Samar Freschi
dc.contributor.authorALVES, Janaina Baptista
dc.contributor.authorGONCALVES, Victor Lucas
dc.contributor.authorYANG, Ariana Campos
dc.contributor.authorKALIL, Jorge
dc.contributor.authorTOLEDO-BARROS, Myrthes Anna Maragna
dc.contributor.authorKOKRON, Cristina Maria
dc.date.accessioned2023-02-23T14:52:18Z
dc.date.available2023-02-23T14:52:18Z
dc.date.issued2022
dc.description.abstractBackground: 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. Case presentation: 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-/CD4+/CD25+/FOXP3+-396 cells-63%) and a pathogenic mutation in FOXP3 gene (c.1150G > A; p.Ala384Thr), confirmed the diagnosis of IPEX syndrome. Conclusions: 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.eng
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus
dc.identifier.citationALLERGY ASTHMA AND CLINICAL IMMUNOLOGY, v.18, n.1, article ID 105, 6p, 2022
dc.identifier.doi10.1186/s13223-022-00740-9
dc.identifier.issn1710-1492
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/51394
dc.language.isoeng
dc.publisherBMCeng
dc.relation.ispartofAllergy Asthma and Clinical Immunology
dc.rightsopenAccesseng
dc.rights.holderCopyright BMCeng
dc.subject.wosAllergyeng
dc.subject.wosImmunologyeng
dc.titleUnderlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligoeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.citation.scopus0
hcfmusp.contributor.author-fmusphcLEONARDO OLIVEIRA MENDONCA
hcfmusp.contributor.author-fmusphcADRIANA PITCHON DOS REIS CHUSTER
hcfmusp.contributor.author-fmusphcMAYRA DE BARROS DORNA
hcfmusp.contributor.author-fmusphcSAMAR FRESCHI DE BARROS
hcfmusp.contributor.author-fmusphcJANAINA BAPTISTA ALVES
hcfmusp.contributor.author-fmusphcVICTOR LUCAS GONCALVES
hcfmusp.contributor.author-fmusphcARIANA CAMPOS YANG
hcfmusp.contributor.author-fmusphcJORGE ELIAS KALIL FILHO
hcfmusp.contributor.author-fmusphcMYRTHES ANNA MARAGNA TOLEDO BARROS
hcfmusp.contributor.author-fmusphcCRISTINA MARIA KOKRON
hcfmusp.description.articlenumber105
hcfmusp.description.issue1
hcfmusp.description.volume18
hcfmusp.origemWOS
hcfmusp.origem.pubmed36503523
hcfmusp.origem.scopus2-s2.0-85143655694
hcfmusp.origem.wosWOS:000897780700001
hcfmusp.publisher.cityLONDONeng
hcfmusp.publisher.countryENGLANDeng
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hcfmusp.scopus.lastupdate2024-05-10
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