Somatic hypermutation defects in two adult hyper immunoglobulin M patients

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dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidSinem Fırtına / X-8520-2018en_US
dc.contributor.authorYılmaz, Hülya
dc.contributor.authorFırtına, Sinem
dc.contributor.authorSaritas, Merve
dc.contributor.authorSayitoglu, Muge
dc.contributor.authorAr, Muslum Cem
dc.date.accessioned2022-07-30T11:14:53Z
dc.date.available2022-07-30T11:14:53Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Biyoenformatik ve Genetik Bölümüen_US
dc.description.abstractHyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, we identifed two novel variants in AID and UNG genes, which are associated with autosomal recessive type HIGM, by targeted next-generation sequencing (NGS) panel. A biallelic 11 base pair deletion (c.278_288delATGTGGCCGAC) in the coding sequence of activation-induced cytidine deaminase (AID) gene was identifed in a 36-year-old patient. Biallelic two base pair insertion in exon 7 of uracil nucleoside glycosylase (UNG) gene (c.924_925insGG) was identifed in a 40-year-old patient. Both variants were confrmed by Sanger sequencing. HIGM, like many of the other primary immunodefciencies, is a rare and difcultto-diagnose entity with heterogeneous clinical phenotypes. It should be suspected in patients with a history of early-onset recurrent respiratory infections, enlarged lymph nodes, and autoimmune disorders. There might be a delay in diagnosis until adulthood especially in subtle cases or if HIGM is not included in the diferential diagnosis due lacking of awareness. In this regard, genetic testing with NGS-based diagnostic panels provide a rapid and reasonable tool for the molecular diagnosis of patients with immunodefciencies and hence, decrease the time to diagnose and prevent infection-related complications associated with increased morbidity and mortality.en_US
dc.identifier.citationYilmaz H, Fırtına S, Sarıtaş M, Sayitoğlu M, Ar MC. Somatic hypermutation defects in two adult hyper immunoglobulin M patients. Immunol Res. 2022 Jul 25. doi: 10.1007/s12026-022-09310-y. Epub ahead of print. PMID: 35879489.en_US
dc.identifier.doi10.1007/s12026-022-09310-yen_US
dc.identifier.issn0257-277Xen_US
dc.identifier.pmid35879489en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttp://doi.org/10.1007/s12026-022-09310-y
dc.identifier.urihttps://hdl.handle.net/20.500.12713/3061
dc.identifier.wosWOS:000829699900001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinem
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/closedAccessen_US
dc.subjectHyper IgM Defciencyen_US
dc.subjectAIDen_US
dc.subjectUNGen_US
dc.subjectPrimary Immunodefciencyen_US
dc.titleSomatic hypermutation defects in two adult hyper immunoglobulin M patientsen_US
dc.typeArticleen_US

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