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

Detalhes bibliográficos
Autor(a) principal: Santo, GC
Data de Publicação: 2018
Outros Autores: Baldeiras, I, Guerreiro, R, Ribeiro, JA, Cunha, R, Youngstein, T, Nanthapisal, S, Leitão, J, Fernandes, C, Caramelo, F, Almeida, MR, Brás, J, Santana, I
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/2258
Resumo: The 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).
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spelling Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown CauseAdenosina DesaminaseSíndrome de SneddonImunoglobulina MThe 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).RIHUCSanto, GCBaldeiras, IGuerreiro, RRibeiro, JACunha, RYoungstein, TNanthapisal, SLeitão, JFernandes, CCaramelo, FAlmeida, MRBrás, JSantana, I2019-10-01T15:00:40Z20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/2258engCerebrovasc Dis. 2018;46(5-6):257-264.10.1159/000495794info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:23:38Zoai:rihuc.huc.min-saude.pt:10400.4/2258Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:43.014001Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
title Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
spellingShingle Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
Santo, GC
Adenosina Desaminase
Síndrome de Sneddon
Imunoglobulina M
title_short Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
title_full Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
title_fullStr Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
title_full_unstemmed Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
title_sort Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
author Santo, GC
author_facet Santo, GC
Baldeiras, I
Guerreiro, R
Ribeiro, JA
Cunha, R
Youngstein, T
Nanthapisal, S
Leitão, J
Fernandes, C
Caramelo, F
Almeida, MR
Brás, J
Santana, I
author_role author
author2 Baldeiras, I
Guerreiro, R
Ribeiro, JA
Cunha, R
Youngstein, T
Nanthapisal, S
Leitão, J
Fernandes, C
Caramelo, F
Almeida, MR
Brás, J
Santana, I
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Santo, GC
Baldeiras, I
Guerreiro, R
Ribeiro, JA
Cunha, R
Youngstein, T
Nanthapisal, S
Leitão, J
Fernandes, C
Caramelo, F
Almeida, MR
Brás, J
Santana, I
dc.subject.por.fl_str_mv Adenosina Desaminase
Síndrome de Sneddon
Imunoglobulina M
topic Adenosina Desaminase
Síndrome de Sneddon
Imunoglobulina M
description The 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).
publishDate 2018
dc.date.none.fl_str_mv 2018
2018-01-01T00:00:00Z
2019-10-01T15:00:40Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/2258
url http://hdl.handle.net/10400.4/2258
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Cerebrovasc Dis. 2018;46(5-6):257-264.
10.1159/000495794
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