Primary antibody deficiencies in Turkey: Molecular and clinical aspects

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dc.authorid0000-0002-4551-5433
dc.contributor.authorFırtına, Sinem
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorNg, Özden Hatırnaz
dc.contributor.authorKıykım, Ayça
dc.contributor.authorYücel Özek, Esra
dc.contributor.authorKara, Manolya
dc.contributor.authorAydıner, Elif
dc.contributor.authorNepesov, Serdar
dc.contributor.authorCamcıoğlu, Yıldız
dc.contributor.authorSayar, Esra Hazar
dc.contributor.authorGüngören, Ezgi Yalçın
dc.contributor.authorReisli, İsmail
dc.contributor.authorHançerli Törün, Selda
dc.contributor.authorHaskoloğlu, Şule
dc.contributor.authorÇöğürlü, Tuba
dc.contributor.authorKaya, Ayşenur
dc.contributor.authorÇekiç, Şükrü
dc.contributor.authorBarış, Safa
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2022-12-22T13:18:48Z
dc.date.available2022-12-22T13:18:48Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
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.
dc.description.sponsorshipIstanbul University ; Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) ; Istanbul Bilgi Universityen_US
dc.identifier.citationFırtına, S., Ng, Y. Y., Ng, Ö. H., Kıykım, A., Yücel Özek, E., Kara, M. ... Sayitoğlu, M. (2022). Primary antibody deficiencies in Turkey: Molecular and clinical aspects. Immunologic Research, 70(1), 44-55. https://doi.org/10.1007/s12026-021-09242-z
dc.identifier.doi10.1007/s12026-021-09242-z
dc.identifier.endpage55
dc.identifier.issn0257-277X
dc.identifier.issn1559-0755
dc.identifier.issue1
dc.identifier.pmid34618307
dc.identifier.scopus2-s2.0-85116521639
dc.identifier.scopusqualityQ3
dc.identifier.startpage44
dc.identifier.urihttps://doi.org/10.1007/s12026-021-09242-z
dc.identifier.urihttps://hdl.handle.net/20.500.12511/10167
dc.identifier.volume70
dc.identifier.wos000705723700001en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorNepesov, Serdar
dc.language.isoen
dc.publisherHumana Press Inc
dc.relation.ispartofImmunologic Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPrimary Antibody Deficiencies
dc.subjectCommon Variable Immune Deficiency
dc.subjectTargeted Next-Generation Sequencing
dc.titlePrimary antibody deficiencies in Turkey: Molecular and clinical aspects
dc.typeArticle

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