"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.

摘要: Primary immunodeficiencies (PIDs) represent a group of mostly monogenic disorders caused by loss- or gain-of-function mutations in over 340 known genes that lead to abnormalities the development and/or function immune system. However, different can affect same cell-signaling pathway and result overlapping clinical phenotypes. In particular, encoding for members PI3K/AKT/mTOR/S6K signaling cascade molecules interacting with this have been associated PIDs are often characterized coexistence both deficiency autoimmunity. The serine/threonine kinase mTOR (mechanistic/mammalian target rapamycin), which acts downstream PI3K AKT, is emerging as key regulator responses. It integrates variety signals from microenvironment control cell growth, proliferation, metabolism. plays therefore central role regulation cells’ differentiation functions. Here, we review share an impairment propose name them “immune TOR-opathies” analogy neurological has originally defined PB Crino due aberrant (1). A better understanding played complex intracellular pathophysiology crucial develop targeted therapies.