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., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.136, sa.1, ss.140-157, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 136 Sayı: 1
Basım Tarihi: 2015
Doi Numarası: 10.1016/j.jaci.2015.03.005
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.140-157
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

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).