Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.

ABSTRACT: During B and T lymphocyte maturation, V(D)J recombination is initiated by creation of DNA double-strand breaks. Artemis is an exonuclease essential for their subsequent repair by nonhomologous end-joining. Mutations in DCLRE1C, the gene encoding Artemis, cause T^-B^-NK⁺ severe combined immunodeficiency (ART-SCID) and also confer heightened sensitivity to ionizing radiation and alkylating chemotherapy. Although allogeneic hematopoietic cell transplantation can treat ART-SCID, conditioning regimens are poorly tolerated, leading to early mortality and/or late complications, including short stature, endocrinopathies, and dental aplasia. However, without alkylating chemotherapy as preconditioning, patients usually have graft rejection or limited T cell and no B ce

SUBMITTER: Punwani D 

PROVIDER: S-EPMC5278830 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature