Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity
Zeynep Meric,Betul Gemici Karaaslan,18 Authors,A. Kıykım
2024 · DOI: 10.1111/pai.14171
Pediatric Allergy and Immunology · 3 Citations
TLDR
The clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented and the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.
Abstract
Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.