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.

doi:10.1101/804732

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bioRxiv · 10.1101/804732

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.

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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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Mann, T., Smith, A., Spencer, S., Thaventhiran, J., Russell, A.. 2019-10-15. The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID). https://doi.org/10.1101/804732

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