Article
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Clinical immunology (Orlando, Fla.) - 1 Dec 2013
Lee Pamela P, Woodbine Lisa, Gilmour Kimberly C, Bibi Shahnaz, Cale Catherine M, Amrolia Persis J, Veys Paul A, Davies E Graham, Jeggo Penny A, Jones Alison
Abstract excerpt
Defective V(D)J recombination and DNA double-strand break (DSB) repair severely impair the development of T-lymphocytes and B-lymphocytes. Most patients manifest a severe combined immunodeficiency during infancy. We report 2 siblings with combined immunodeficiency (CID) and immunodysregulation caused by compound heterozygous Artemis mutations, including an exon 1-3 deletion generating a null allele, and a...
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