RAG1: the cornerstone gene involved in various immune diseases and cancers.

Abstract

RAG1 is an abbreviation for recombination activating gene-1 which is the cornerstone in the process of V(D)J recombination. The process enables our immune system to produce an unlimited number of antibodies and T-cell receptors to fight almost any infection. RAG1 mutations are greatly involved in the development of primary immunodeficiencies (PID) including the early-onset severe combined immunodeficiency and Omenn Syndrome. Additionally, RAG mutations are found in delayed-onset cases of combined immunodeficiency with autoimmunity and/or granulomas. The early-onset category occurs due to severe immunodeficiency and the delayed-onset one occurs due to immune dysregulation. Furthermore, RAG1 abnormalities are found in several hematological neoplasms such as acute lymphoblastic leukemia (ALL)