Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired function in one or more components of the immune system. Next-generation sequencing (NGS) has driven a rapid increase in the recognition of such defects, though th...

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Bibliographic Details
Main Authors: Alice Grossi, Maurizio Miano, Marina Lanciotti, Francesca Fioredda, Daniela Guardo, Elena Palmisani, Paola Terranova, Giuseppe Santamaria, Francesco Caroli, Roberta Caorsi, Stefano Volpi, Marco Gattorno, Carlo Dufour, Isabella Ceccherini
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
bone marrow failure
autoinflammation
lymphoproliferation
next-generation sequencing (NGS)
NGS-based gene panels
genotype-phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/12/9/1299

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https://www.mdpi.com/2073-4425/12/9/1299

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