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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

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 fun...

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Principais autores: Steven Strubbe, Marieke De Bruyne, Ulrich Pannicke, Elien Beyls, Bart Vandekerckhove, Georges Leclercq, Elfride De Baere, Victoria Bordon, Anne Vral, Klaus Schwarz, Filomeen Haerynck, Tom Taghon
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021-06-01
Serier:Frontiers in Immunology
Fag:
SCID
NGS
ARTEMIS
V(D)J recombination
DNA damage repair
Online adgang:https://www.frontiersin.org/articles/10.3389/fimmu.2021.674226/full
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