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Article

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

The Journal of allergy and clinical immunology - 1 Jul 2015

Felgentreff Kerstin, Lee Yu Nee, Frugoni Francesco, Du Likun, van der Burg Mirjam, Giliani Silvia, Tezcan Ilhan, Reisli Ismail, Mejstrikova Ester, de Villartay Jean-Pierre, Sleckman Barry P, Manis John, Notarangelo Luigi D

Abstract excerpt

BACKGROUND: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of a subset of DNA double-strand breaks. Patients with ARTEMIS deficiency usually present with severe combined immunodeficiency (SCID) and cellular radiosensitivity, but hypomorphic mutations can...

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Identifiers

PMID: 25917813
DOI: 10.1016/j.jaci.2015.03.005
PMCID: PMC4494888

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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.PMID 25917813Read ↗

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.Semantic proximity Read ↗

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