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Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation

2017-12-05Journal article Open access
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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.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.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClinical Case Reports 2017; 5(12): 2066–2070pt_PT
dc.identifier.doi10.1002/ccr3.1257pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.7/816
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley Open Accesspt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/ccr3.1257/abstractpt_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.typejournal article
dspace.entity.typePublication
oaire.citation.endPage2070pt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPage2066pt_PT
oaire.citation.titleClinical Case Reportspt_PT
oaire.citation.volume5pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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