Article
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
Frontiers in immunology - 1 Jan 2021
Strubbe Steven, De Bruyne Marieke, Pannicke Ulrich, Beyls Elien, Vandekerckhove Bart, Leclercq Georges, De Baere Elfride, Bordon Victoria, Vral Anne, Schwarz Klaus, Haerynck Filomeen, Taghon Tom
Abstract excerpt
Severe Combined Immune Deficiency (SCID) is a primary deficiency of the immune system in which opportunistic and recurring infections are often fatal during neonatal or infant life. SCID is caused by an increasing number of genetic defects that induce an abrogation of T lymphocyte development or function in which B and NK cells might be affected as well. Because of the increased availability and usage of...
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