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Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause

dc.contributor.authorSanto, GC
dc.contributor.authorBaldeiras, I
dc.contributor.authorGuerreiro, R
dc.contributor.authorRibeiro, JA
dc.contributor.authorCunha, R
dc.contributor.authorYoungstein, T
dc.contributor.authorNanthapisal, S
dc.contributor.authorLeitão, J
dc.contributor.authorFernandes, C
dc.contributor.authorCaramelo, F
dc.contributor.authorAlmeida, MR
dc.contributor.authorBrás, J
dc.contributor.authorSantana, I
dc.date.accessioned2019-10-01T15:00:40Z
dc.date.available2019-10-01T15:00:40Z
dc.date.issued2018
dc.description.abstractThe association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DADA2), characterized by recurrent fevers and vascular pathologic features that included LR and stroke. All the patients carried recessively inherited mutations in cat eye syndrome chromosome region candidate 1 gene (CECR1), encoding the adenosine deaminase 2 (ADA2) protein. Genetic testing is the standard for the diagnosis of DADA2. However, the diagnostic accuracy of more affordable laboratorial analysis in CECR1-mutated individuals remains to be established. We aim to determine whether plasma ADA2 activity and serum immunoglobulin M (IgM) levels can distinguish (1) DADA2 from other adult patients within the SnS spectrum, and (2) healthy CECR1 heterozygous (HHZ) from healthy controls (HC).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCerebrovasc Dis. 2018;46(5-6):257-264.pt_PT
dc.identifier.doi10.1159/000495794pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.4/2258
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectAdenosina Desaminasept_PT
dc.subjectSíndrome de Sneddonpt_PT
dc.subjectImunoglobulina Mpt_PT
dc.titleAdenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Causept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage264pt_PT
oaire.citation.issue5-6pt_PT
oaire.citation.startPage257-264pt_PT
oaire.citation.volume46pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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