A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Detalhes bibliográficos
Autor(a) principal: Marujo, F
Data de Publicação: 2021
Outros Autores: Pelham, SJ, Freixo, J, Cordeiro, AI, Martins, C, Casanova, JL, Lei, WT, Puel, A, Farela Neves, J
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/4470
Resumo: nborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
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spelling A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous CandidiasisAdaptor Proteins, Signal Transducing / genetics*Candidiasis, Chronic Mucocutaneous / genetics*ChildGenetic Predisposition to Disease / geneticsHumansInterleukin-17 / geneticsMutation / genetics*HDE PEDnborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.SpringerlinkRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEMarujo, FPelham, SJFreixo, JCordeiro, AIMartins, CCasanova, JLLei, WTPuel, AFarela Neves, J2023-03-22T09:36:56Z20212021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/4470engJ Clin Immunol . 2021 Aug;41(6):1376-1379.10.1007/s10875-021-01026-2info: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:RCAAP2023-03-26T03:45:37Zoai:repositorio.chlc.min-saude.pt:10400.17/4470Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:46:11.678912Repositório 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 A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
title A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
spellingShingle A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
Marujo, F
Adaptor Proteins, Signal Transducing / genetics*
Candidiasis, Chronic Mucocutaneous / genetics*
Child
Genetic Predisposition to Disease / genetics
Humans
Interleukin-17 / genetics
Mutation / genetics*
HDE PED
title_short A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
title_full A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
title_fullStr A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
title_full_unstemmed A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
title_sort A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
author Marujo, F
author_facet Marujo, F
Pelham, SJ
Freixo, J
Cordeiro, AI
Martins, C
Casanova, JL
Lei, WT
Puel, A
Farela Neves, J
author_role author
author2 Pelham, SJ
Freixo, J
Cordeiro, AI
Martins, C
Casanova, JL
Lei, WT
Puel, A
Farela Neves, J
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Marujo, F
Pelham, SJ
Freixo, J
Cordeiro, AI
Martins, C
Casanova, JL
Lei, WT
Puel, A
Farela Neves, J
dc.subject.por.fl_str_mv Adaptor Proteins, Signal Transducing / genetics*
Candidiasis, Chronic Mucocutaneous / genetics*
Child
Genetic Predisposition to Disease / genetics
Humans
Interleukin-17 / genetics
Mutation / genetics*
HDE PED
topic Adaptor Proteins, Signal Transducing / genetics*
Candidiasis, Chronic Mucocutaneous / genetics*
Child
Genetic Predisposition to Disease / genetics
Humans
Interleukin-17 / genetics
Mutation / genetics*
HDE PED
description nborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021-01-01T00:00:00Z
2023-03-22T09:36:56Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/4470
url http://hdl.handle.net/10400.17/4470
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Clin Immunol . 2021 Aug;41(6):1376-1379.
10.1007/s10875-021-01026-2
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springerlink
publisher.none.fl_str_mv Springerlink
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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