APECED in Turkey: A case report and insights on genetic and phenotypic variability

Simple item page
dc.contributor.authorFierabracci, Alessandra
dc.contributor.authorPellegrino, Marsha
dc.contributor.authorFrasca, Federica
dc.contributor.authorBetterle, Corrado
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.date.accessioned2024-03-28T10:35:29Z
dc.date.available2024-03-28T10:35:29Z
dc.date.issued2018-09
dc.description.abstractAPECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 published Turkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, we assessed retrospectively how often the Ferre/Lionakis criteria would have resulted in earlier diagnosis in Finns, Sardinians and Turks in respect to the classic criteria. Since an earlier diagnosis could have been possible in 18.8% of Turkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria could indeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies.en_US
dc.description.sponsorshipMinistry of Health, Italy (201702P003967)
dc.identifier.citationFierabracci, A. vd. (2018). ''APECED in Turkey: A case report and insights on genetic and phenotypic variability''. Clinical Immunology, 194, 60-66.en_US
dc.identifier.doihttps://doi.org/10.1016/j.clim.2018.06.012
dc.identifier.endpage66tr_TR
dc.identifier.issn1521-6616
dc.identifier.issn1521-7035
dc.identifier.pubmed30018023tr_TR
dc.identifier.scopus2-s2.0-85049441932tr_TR
dc.identifier.startpage60tr_TR
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S1521661617307854
dc.identifier.urihttps://hdl.handle.net/11452/40649
dc.identifier.volume194tr_TR
dc.identifier.wos000442714000008tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherAcademic Press en_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalClinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectImmunologyen_US
dc.subjectAPECED-AIRE gene-genotype-phenotype variability-Turkish populationen_US
dc.subjectCandidiasis-ectodermal dystrophyen_US
dc.subjectPolyendocrine syndrome type-1en_US
dc.subjectSyndrome type-len_US
dc.subjectAutoimmune regulator aireen_US
dc.subjectPolyglandular syndrome type-1en_US
dc.subjectPrimary immunodeficiencyen_US
dc.subjectClinical-manifestationsen_US
dc.subjectEuropen patientsen_US
dc.subjectAddisons-diseaseen_US
dc.subjectFollow-upen_US
dc.subject.emtreeCarboxylyaseen_US
dc.subject.emtreeHemoglobinen_US
dc.subject.emtreeNonsteroid antiinflammatory agenten_US
dc.subject.emtreeRheumatoid factoren_US
dc.subject.emtreeTryptophan hydroxylaseen_US
dc.subject.emtreeAbdominal distensionen_US
dc.subject.emtreeAlopeciaen_US
dc.subject.emtreeArthralgiaen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeAutoimmune hemolytic anemiaen_US
dc.subject.emtreeAutoimmune polyendocrinopathy candidiasis ectodermal dystrophyen_US
dc.subject.emtreeAutoimmunityen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChilden_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeCohort analysisen_US
dc.subject.emtreeComparative studyen_US
dc.subject.emtreeCoombs testen_US
dc.subject.emtreeDiarrheaen_US
dc.subject.emtreeDry eyeen_US
dc.subject.emtreeEuropeanen_US
dc.subject.emtreeFinn (people)en_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenetic screeningen_US
dc.subject.emtreeGenetic variabilityen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeImmunomodulationen_US
dc.subject.emtreeKneeen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMucocutaneous candidiasisen_US
dc.subject.emtreePhenotypeen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeReticulocyte counten_US
dc.subject.emtreeRetrospective studyen_US
dc.subject.emtreeSchool childen_US
dc.subject.emtreeSjoegren syndromeen_US
dc.subject.emtreeTurk (people)en_US
dc.subject.emtreeTurkey (republic)en_US
dc.subject.emtreeVitiligoen_US
dc.subject.emtreeXerostomiaen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreePolyendocrinopathyen_US
dc.subject.emtreeTurkey (bird)en_US
dc.subject.emtreeYoung adulten_US
dc.subject.meshAdulten_US
dc.subject.meshCandidiasis, chronic mucocutaneousen_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshPolyendocrinopathies, autoimmuneen_US
dc.subject.meshRetrospective studiesen_US
dc.subject.meshTurkeyen_US
dc.subject.meshYoung adulten_US
dc.subject.scopusType 1 Autoimmune Polyendocrinopathy Syndrome; Regulator; Central Toleranceen_US
dc.subject.wosImmunologyen_US
dc.titleAPECED in Turkey: A case report and insights on genetic and phenotypic variabilityen_US
dc.typeArticleen_US

Files

License bundle
Now showing 1 - 1 of 1
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Web of Science
PubMed
Scopus