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A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain

2008-07Journal article Restricted access
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dc.contributor.authorCosta-Carvalho, B.T.
dc.contributor.authorde Moraes-Pinto, M.I.
dc.contributor.authorde Almeida, L.C.
dc.contributor.authorde Seixas Alves, M.T.
dc.contributor.authorMaia, R.P.
dc.contributor.authorde Souza, R.L.
dc.contributor.authorBarreto, M.
dc.contributor.authorLourenço, L.
dc.contributor.authorVicente, A.M.
dc.contributor.authorCoutinho, A.
dc.contributor.authorCarneiro-Sampaio, M.
dc.date.accessioned2012-02-27T16:32:04Z
dc.date.available2012-02-27T16:32:04Z
dc.date.issued2008-07
dc.description.abstractIPEX is a rare X-linked syndrome, with immune dysfunction, polyendocrinopathy and enteropathy. We describe an infant who died at the age of 11 months after developing eczema, severe diarrhoea, diabetes, hypothyroidism, thrombocytopenia and four episodes of septicaemia. Immunophenotyping of peripheral blood at 8 months revealed normal CD3+ T, CD4+ T and CD8+ T cell numbers, with low NK and B cells. CD4+ and CD8+ T lymphocytes showed remarkably low numbers and percentages of naïve cells and high numbers of memory CD4 and CD8 cells. At autopsy, an intense depletion of immune cells in thymus, spleen and lymph nodes was observed. No Hassall's corpuscles were found in thymus. Lymphocytic pancreatitis and intense villous atrophy with mucosal lymphocytic infiltration in small bowel were also seen. FOXP3 gene studies revealed a: C-->G substitution 3 bp upstream of exon 10, which prevents splicing between exons 9 and 10, likely resulting in a functionally altered or deficient protein. Florid clinical findings are usually observed in association of forkhead DNA-binding domain mutations. The intense depletion of naïve T cells we report suggest that depletion of immune cells might take place due to uncontrolled activation due to the absence of regulatory T cells.por
dc.identifier.citationScand J Immunol. 2008 Jul;68(1):85-91. Epub 2008 May 15por
dc.identifier.issn0300-9475
dc.identifier.otherdoi:10.1111/j.1365-3083.2008.02055.x
dc.identifier.urihttp://hdl.handle.net/10400.18/661
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherBlackwell Publishingpor
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1111/j.1365-3083.2008.02055.x/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+4+Feb+from+10-12+GMT+for+monthly+maintenancepor
dc.subjectDeterminantes Imunológicos em Doenças Crónicaspor
dc.titleA remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domainpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage91por
oaire.citation.startPage85por
oaire.citation.titleScandinavian Journal of Immunologypor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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