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The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)
Mann, T.; Smith, A.; Spencer, S.; Thaventhiran, J.; Russell, A.
2019-10-15
immunology
10.1101/804732
bioRxiv
Show abstract
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.
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