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dc.contributor.authorOftedal, Bergithe Eikeland
dc.contributor.authorAssing, Kristian
dc.contributor.authorBaris, Safa
dc.contributor.authorSafgren, Stephanie L.
dc.contributor.authorJohansen, Isik S.
dc.contributor.authorJakobsen, Marianne Antonius
dc.contributor.authorBabovic-Vuksanovic, Dusica
dc.contributor.authorAgre, Katherine
dc.contributor.authorKlee, Eric W.
dc.contributor.authorMajcic, Emina
dc.contributor.authorFerré, Elise M.N.
dc.contributor.authorSchmitt, Monica M.
dc.contributor.authorDiMaggio, Tom
dc.contributor.authorRosen, Lindsey B.
dc.contributor.authorRahman, Muhammad
dc.contributor.authorChrysis, Dionisios
dc.contributor.authorGiannakopoulos, Aristeidis
dc.contributor.authorGarcia, Maria Tallon
dc.contributor.authorGonzález-Granado, Luis Ignacio
dc.contributor.authorStanley, Katherine
dc.contributor.authorGalant-Swafford, Jessica
dc.contributor.authorSuwannarat, Pim
dc.contributor.authorMeyts, Isabelle
dc.contributor.authorLionakis, Michail S.
dc.contributor.authorHusebye, Eystein Sverre
dc.date.accessioned2023-09-22T11:32:14Z
dc.date.available2023-09-22T11:32:14Z
dc.date.created2023-06-08T13:55:48Z
dc.date.issued2023
dc.identifier.issn2589-0042
dc.identifier.urihttps://hdl.handle.net/11250/3091359
dc.description.abstractAutoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND domains have been associated with an incompletely penetrant milder phenotype with later onset familial clustering, often masquerading as organ-specific autoimmunity. Patients with immunodeficiencies or autoimmunity where genetic analyses revealed heterozygous AIRE mutations were included in the study and the dominant-negative effects of the AIRE mutations were functionally assessed in vitro. We here report additional families with phenotypes ranging from immunodeficiency, enteropathy, and vitiligo to asymptomatic carrier status. APS-1-specific autoantibodies can hint to the presence of these pathogenic AIRE variants although their absence does not rule out their presence. Our findings suggest functional studies of heterozygous AIRE variants and close follow-up of identified individuals and their families.en_US
dc.language.isoengen_US
dc.publisherCell Pressen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleDominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypesen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2023 The Author(s)en_US
dc.source.articlenumber106818en_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.doi10.1016/j.isci.2023.106818
dc.identifier.cristin2153086
dc.source.journaliScienceen_US
dc.identifier.citationiScience. 2023, 26 (6), 106818.en_US
dc.source.volume26en_US
dc.source.issue6en_US


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Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal