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dc.contributor.authorMoraes-Fontes, Maria Francisca-
dc.contributor.authorHsu, Amy P.-
dc.contributor.authorCaramalho, Iris-
dc.contributor.authorMartins, Catarina-
dc.contributor.authorAraújo, Ana Carolina-
dc.contributor.authorLourenço, Filipa-
dc.contributor.authorTaulaigo, Anna V.-
dc.contributor.authorLladó, Ana-
dc.contributor.authorHolland, Steven M.-
dc.contributor.authorUzel, Gulbu-
dc.date.accessioned2017-12-07T15:28:40Z-
dc.date.available2017-12-07T15:28:40Z-
dc.date.issued2017-12-05-
dc.identifier.citationClinical Case Reports 2017; 5(12): 2066–2070pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.7/816-
dc.descriptionFurther funders are not indicated in the document. There is no public supplementary material available for this publication. This deposit is composed by the main article, and it hasn't any supplementary materials associated.pt_PT
dc.description.abstractPrimary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.pt_PT
dc.description.sponsorshipThis work supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH, USA.pt_PT
dc.language.isoengpt_PT
dc.publisherWiley Open Accesspt_PT
dc.rightsopenAccesspt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCTLA-4 mutationpt_PT
dc.subjectEvans syndromept_PT
dc.subjecthypogammaglobulinemiapt_PT
dc.subjectsepsispt_PT
dc.titleFatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutationpt_PT
dc.typearticlept_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
degois.publication.firstPage2066pt_PT
degois.publication.issue12pt_PT
degois.publication.lastPage2070pt_PT
degois.publication.titleClinical Case Reportspt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/ccr3.1257/abstractpt_PT
dc.peerreviewedyespt_PT
degois.publication.volume5pt_PT
dc.identifier.doi10.1002/ccr3.1257pt_PT
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