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
10.3389/fimmu.2021.674226
Front Immunol
2021 Jun 17;12:674226.
artemis dna damage repair ngs scid v(d)j recombination
CC BY
https://pubmed.ncbi.nlm.nih.gov/34220820/
DNA Repair / genetics DNA-Binding Proteins / genetics Endonucleases / genetics Severe Combined Immunodeficiency / genetics V(D)J Recombination / genetics
DNA Repair / genetics DNA-Binding Proteins / genetics Endonucleases / genetics Severe Combined Immunodeficiency / genetics V(D)J Recombination / genetics Case Reports Research Support, Non-U.S. Gov't Female Humans Infant Mutation Pedigree RNA Splicing DNA-Binding Proteins DCLRE1C protein, human Endonucleases
PMC8248492
34220820
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
2021