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The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)
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The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)
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The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)
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Paper
The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)
2019
Overview
The functional validation of genetic variants of uncertain significance (VUS) found in PID patients by next-generation sequencing has traditionally been carried out in model systems that are susceptible to artefact. We use CRISPR correction of primary human T lymphocytes to demonstrate that a specific variant in an IL-6R deficient patient is causative for their condition. This methodology can be adapted and used for variant assessment of the heterogeneous genetic defects that affect T lymphocytes in PID.
Publisher
Cold Spring Harbor Laboratory Press,Cold Spring Harbor Laboratory
