Primary antibody deficiencies in Turkey: molecular and clinical aspects

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dc.contributor.authorFirtina, Sinem
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNg, Ozden H.
dc.contributor.authorKiykim, Ayca
dc.contributor.authorOzek, Esra Yucel
dc.contributor.authorKara, Manolya
dc.contributor.authorAydiner, Elif
dc.date.accessioned2024-02-23T13:59:44Z
dc.date.available2024-02-23T13:59:44Z
dc.date.issued2022
dc.departmentNEÜen_US
dc.description.abstractPrimary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n = 4), CD40L (n = 1), ICOS (n = 1), IGHM (n = 1), and TCF3 (n = 1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2-10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.en_US
dc.description.sponsorshipIstanbul University Research Fund [24793, 20499]; Scientific and Technological Research Council of Turkey (TUBITAK); Istanbul Bilgi University Research Fund [NGYY-2018.01.0006]en_US
dc.description.sponsorshipThis project was supported by Istanbul University Research Fund (Project no: 24793 and project no: 20499) and Istanbul Bilgi University Research Fund (NGYY-2018.01.0006). Sinem Firtina was funded by the Scientific and Technological Research Council of Turkey (TUBITAK) 2211-C National Scholarship Program for PhD Students.en_US
dc.identifier.doi10.1007/s12026-021-09242-z
dc.identifier.endpage55en_US
dc.identifier.issn0257-277X
dc.identifier.issn1559-0755
dc.identifier.issue1en_US
dc.identifier.pmid34618307en_US
dc.identifier.scopus2-s2.0-85116521639en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage44en_US
dc.identifier.urihttps://doi.org/10.1007/s12026-021-09242-z
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11304
dc.identifier.volume70en_US
dc.identifier.wosWOS:000705723700001en_US
dc.identifier.wosqualityQ3en_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/closedAccessen_US
dc.subjectPrimary Antibody Deficienciesen_US
dc.subjectCommon Variable Immune Deficiencyen_US
dc.subjectTargeted Next-Generation Sequencingen_US
dc.titlePrimary antibody deficiencies in Turkey: molecular and clinical aspectsen_US
dc.typeArticleen_US

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