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

ARTEMIS deficiency; DCLRE1C mutations; DNA repair; nonhomologous end-joining; severe combined immunodeficiency; V(D)J recombination; Adolescent; Adult; Alleles; B-Lymphocytes; Cell Line, Transformed; Child; Child, Preschool; DNA Mutational Analysis; DNA Repair; Heterozygote; Histones; Humans; Infant; Infant, Newborn; Male; Mutation; Nuclear Proteins; Oncogene Proteins v-abl; Phenotype; Radiation Tolerance; Radiation, Ionizing; Severe Combined Immunodeficiency; V(D)J Recombination; Young Adult; Immunology and Allergy; Immunology