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

Felgentreff, Kerstin; Lee, Yu; Frugoni, Francesco; Du, Likun; van der Burg, Mirjam; Giliani, Silvia; Tezcan, Ilhan; REİSLİ, İSMAİL; Mejstrikova, Ester; de Villartay, Jean-Pierre; Sleckman, Barry; Manis, John; Notarangelo, Luigi

doi:10.1016/j.jaci.2015.03.005

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

Felgentreff K., Lee Y. N., Frugoni F., Du L., van der Burg M., Giliani S., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.136, no.1, pp.140-157, 2015 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 136 Issue: 1
Publication Date: 2015
Doi Number: 10.1016/j.jaci.2015.03.005
Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.140-157
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

Abstract

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 cause milder phenotypes (leaky SCID).