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

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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) identifier identifier identifier


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).