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Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.

Scandinavian journal of immunology - 1 Jun 2022

Aykut Ayca, Durmaz Asude, Karaca Neslihan, Gulez Nesrin, Genel Ferah, Celmeli Fatih, Ozturk Gulyuz, Atay Didem, Aydogmus Cigdem, Kiykim Ayca, Aksu Guzide, Kutukculer Necil

Abstract excerpt

Human Inborn Errors of Immunity (IEIs) are clinically and genetically heterogeneous group of diseases, with relatively mild clinical course or severe types that can be life-threatening. Severe combined immunodeficiency (SCID) is the most severe form of IEIs, which is caused by monogenic defects that impair the proliferation and function of T, B, and NK cells. According to the most recent report by the...

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High-Throughput Nucleotide Sequencing
Killer Cells, Natural
Mutation
Severe Combined Immunodeficiency
Turkey

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35303369
DOI: 10.1111/sji.13163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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