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Article

Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing.

Pediatric allergy, immunology, and pulmonology - 1 Mar 2020

Erman Baran, Çipe Funda

Abstract excerpt

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital disorders characterized by susceptibility to recurrent infections, allergy, malignancies and autoimmunity. The identification of disease-causing genetic defects is critically important for treatment options. In last decade, next-generation sequencing (NGS)-based methods has enabled the rapid genetic screening and the discovery...

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Identifiers

PMID: 33406023
DOI: 10.1089/ped.2019.1097
PMCID: PMC7875111

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