Journal article
Positive newborn screen: a case of a novel variant in DCLRE1C in a patient with SCID
Abstract
Background: Artemis enzyme, encoded by the DCLRE1C gene, is essential to V(D)J recombination in both T and B lymphocytes. Artemis functions as an important component of the nonhomologous end-joining DNA double-strand break repair pathway. Artemis deficiency leads to a T-B-NK+ severe combined immune deficiency (SCID) associated with radiosensitivity.
Clinical presentation: We present a case of a positive newborn screen for SCID …
Authors
Choe N; Brick L; Kozenko M; Chakraborty P; Kernohan KD; Bulman D; Brager R
Journal
LymphoSign Journal, Vol. 7, No. 1, pp. 46–48
Publisher
LymphoSign Journal Limited Partnership
Publication Date
March 1, 2020
DOI
10.14785/lymphosign-2020-0001
ISSN
2292-5937