Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

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dc.authoridKiykim, Ayca/0000-0001-5821-3963
dc.authoridKiykim, Ayca/0000-0001-5821-3963
dc.authoridÇelmeli, Fatih/0000-0002-2983-5058
dc.contributor.authorAykut, Ayca
dc.contributor.authorDurmaz, Asude
dc.contributor.authorKaraca, Neslihan
dc.contributor.authorGulez, Nesrin
dc.contributor.authorGenel, Ferah
dc.contributor.authorCelmeli, Fatih
dc.contributor.authorCogurlu, M. Tuba
dc.date.accessioned2024-08-31T07:49:48Z
dc.date.available2024-08-31T07:49:48Z
dc.date.issued2024
dc.departmentEge Üniversitesien_US
dc.description.abstractHuman Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes. We designed a targeted next-generation sequencing (TNGS) workflow using the Ion AmpliSeq (TM) Primary Immune Deficiency Research Panel to sequence 264 genes associated with IEIs on the Ion S5 (TM) Sequencer. In this study, we report the identification of 38 disease-causing variants, including 16 novel ones, detected in 40 patients across 15 distinct PIRD genes. The application of next-generation sequencing enabled rapid and precise diagnosis of patients with PIRDs.en_US
dc.description.sponsorshipEge Universityen_US
dc.description.sponsorshipNo Statement Availableen_US
dc.identifier.doi10.1007/s12026-024-09477-6
dc.identifier.issn0257-277X
dc.identifier.issn1559-0755
dc.identifier.pmid38644452en_US
dc.identifier.scopus2-s2.0-85190879035en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.1007/s12026-024-09477-6
dc.identifier.urihttps://hdl.handle.net/11454/105004
dc.identifier.wosWOS:001205948300001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofImmunologic Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240831_Uen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectPirden_US
dc.subjectNovel Mutationen_US
dc.titlePrimary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variantsen_US
dc.typeArticleen_US

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