Primary antibody deficiencies in Turkey: molecular and clinical aspects

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dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidSinem Fırtına / X-8520-2018
dc.contributor.authorFırtına, Sinem
dc.contributor.authorNg, Yuk  Yin
dc.contributor.authorNg, Ozden H.
dc.contributor.authorKiykim, Ayca
dc.contributor.authorYucel Ozek, Esra
dc.contributor.authorKara, Manolya
dc.date.accessioned2021-10-13T08:43:59Z
dc.date.available2021-10-13T08:43:59Z
dc.date.issued2021en_US
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_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.identifier.citationFirtina, S., Ng, Y. Y., Ng, O. H., Kiykim, A., Ozek, E. Y., Kara, M., Aydiner, E., Nepesov, S., Camcioglu, Y., Sayar, E. H., Gungoren, E. Y., Reisli, I., Torun, S. H., Haskologlu, S., Cogurlu, T., Kaya, A., Cekic, S., Baris, S., Ozbek, U., Ozen, A., … Sayitoglu, M. (2021). Primary antibody deficiencies in Turkey: molecular and clinical aspects. Immunologic research, 10.1007/s12026-021-09242-z. Advance online publication.en_US
dc.identifier.doi10.1007/s12026-021-09242-zen_US
dc.identifier.pmid34618307en_US
dc.identifier.scopus2-s2.0-85116521639en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.urihttps://doi.org/10.1007/s12026-021-09242-z
dc.identifier.urihttps://hdl.handle.net/20.500.12713/2144
dc.identifier.wosWOS:000705723700001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinem
dc.language.isoenen_US
dc.publisherSpringer Linken_US
dc.relation.ispartofImmunol Res.en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCommon Variable Immune Deficiencyen_US
dc.subjectPrimary Antibody Deficienciesen_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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