B cell abnormalities and autoantibody production in patients with partial RAG deficiency

Mutations in the recombination activating gene 1 ( RAG1 ) and RAG2 humans are associated with a broad spectrum of clinical phenotypes, from severe combined immunodeficiency to immune dysregulation. Partial (hypomorphic) RAG deficiency (pRD) particular, frequently leads hyperinflammation autoimmunity, several underlying intrinsic extrinsic mechanisms causing break tolerance centrally peripherally during T B cell development. However, relative contributions these processes dysregulation remain unclear. In this review, we specifically focus on recently described abnormalities, as well consequent molecular cellular autoantibody production patients pRD.