Repository logo
 
Publication

Fatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo Mutation

2017-12Journal article Open access
Simple item page
dc.contributor.authorMoraes-Fontes, MF
dc.contributor.authorHsu, AP
dc.contributor.authorCaramalho, I
dc.contributor.authorMartins, C
dc.contributor.authorAraújo, AC
dc.contributor.authorLourenço, F
dc.contributor.authorTaulaigo, AV
dc.contributor.authorLladó, A
dc.contributor.authorHolland, SM
dc.contributor.authorUzel, G
dc.date.accessioned2018-10-22T11:13:48Z
dc.date.available2018-10-22T11:13:48Z
dc.date.issued2017-12
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.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSend to Clin Case Rep. 2017;5(12):2066-207pt_PT
dc.identifier.doi10.1002/ccr3.1257pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3081
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherJohn Wiley and Sonspt_PT
dc.subjectCTLA‐4 mutationpt_PT
dc.subjectEvans Syndromept_PT
dc.subjectHypogammaglobulinemiapt_PT
dc.subjectSepsispt_PT
dc.subjectHCC DAUTOIMpt_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.volume5pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Clinical Case Reports 2017_5_2066.pdf
Size:
1.14 MB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DAUTOIM - Artigos