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Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

Ma, Cindy; Chew, Gary; Simpson, Nick; Priyadarshi, Archana; Wong, Melanie; Grimbacher, Bodo; Fulcher, David; Tangye, Stuart G; Cook, Matthew

Description

Hyper-immunoglobulin E syndrome (HIES) is a primary immune def ciency characterized by abnormal and devastating susceptibility to a narrow spectrum of infections, most commonly Staphylococcus aureus and Candida albicans. Recent investigations have identified mutations in STAT3 in the majority of HIES patients studied. Despite the identification of the genetic cause of HIES, the mechanisms underlying the pathological features of this disease remain to be elucidated. Here, we demonstrate a...[Show more]

dc.contributor.authorMa, Cindy
dc.contributor.authorChew, Gary
dc.contributor.authorSimpson, Nick
dc.contributor.authorPriyadarshi, Archana
dc.contributor.authorWong, Melanie
dc.contributor.authorGrimbacher, Bodo
dc.contributor.authorFulcher, David
dc.contributor.authorTangye, Stuart G
dc.contributor.authorCook, Matthew
dc.date.accessioned2015-12-08T22:14:44Z
dc.identifier.issn0022-1007
dc.identifier.urihttp://hdl.handle.net/1885/30401
dc.description.abstractHyper-immunoglobulin E syndrome (HIES) is a primary immune def ciency characterized by abnormal and devastating susceptibility to a narrow spectrum of infections, most commonly Staphylococcus aureus and Candida albicans. Recent investigations have identified mutations in STAT3 in the majority of HIES patients studied. Despite the identification of the genetic cause of HIES, the mechanisms underlying the pathological features of this disease remain to be elucidated. Here, we demonstrate a failure of CD4+ T cells harboring heterozygous STAT3 mutations to generate interleukin 17-secreting (i.e., T helper [Th]17) cells in vivo and in vitro due to a failure to express sufficient levels of the Th17-specific transcriptional regulator retinoid-related orphan receptor γt. Because Th17 cells are enriched for cells with specificities against fungal antigens, our results may explain the pattern of infection susceptibility characteristic of patients with HIES. Furthermore, they underscore the importance of Th17 responses in normal host defense against the common pathogens S. aureus and C. albicans.
dc.publisherRockefeller University Press
dc.sourceJournal of Experimental Medicine
dc.subjectKeywords: interleukin 17; retinoid related orphan receptor gamma; STAT3 protein; transcription factor; adolescent; adult; article; CD4+ T lymphocyte; clinical article; controlled study; enzyme linked immunosorbent assay; female; helper cell; heterozygosity; human;
dc.titleDeficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
dc.typeJournal article
local.description.notesImported from ARIES
local.identifier.citationvolume205
dc.date.issued2008
local.identifier.absfor110799 - Immunology not elsewhere classified
local.identifier.ariespublicationu6800332xPUB73
local.type.statusPublished Version
local.contributor.affiliationMa, Cindy , Garvan Institute of Medical Research
local.contributor.affiliationChew, Gary, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationSimpson, Nick, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationPriyadarshi, Archana, The Canberra Hospital
local.contributor.affiliationWong, Melanie, Children's Hospital at Westmead
local.contributor.affiliationGrimbacher, Bodo, Royal Free Hospital and University College London
local.contributor.affiliationFulcher, David, Westmead Hospital
local.contributor.affiliationTangye, Stuart G, Centenary Institute of Cancer Medicine and Cell Biology
local.contributor.affiliationCook, Matthew, College of Medicine, Biology and Environment, ANU
local.description.embargo2037-12-31
local.bibliographicCitation.issue7
local.bibliographicCitation.startpage1551
local.bibliographicCitation.lastpage1557
local.identifier.doi10.1084/jem.20080218
dc.date.updated2015-12-08T07:53:50Z
local.identifier.scopusID2-s2.0-46949089128
local.identifier.thomsonID000258527000007
CollectionsANU Research Publications

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