Inborn errors of immunity are diseases of the immune system resulting from germline mutations that alter the expression of encoded proteins or molecules. Total updated number of these distinct disorders is currently 406, with 430 different identified gene defects involved. Studies of the underlying mechanisms have contributed in better understanding the pathophysiology of the diseases, but also the complexity of the biology of the innate and adaptive immune system and its interaction with microbes. In this review we present and 24 briefly discuss Inborn Errors of Immunity caused by defects in genes encoding for receptors and protein of cellular membrane, including cytokine receptors, T cell antigen receptor (TCR) complex, cellular surface receptors or receptors signaling causing predominantly antibody deficiencies, co-stimulatory receptors and other surface molecules. These alterations impact many different biological processes of immune-system cells, including development, proliferation, activation and down-regulation of the immunological response, and result in a variety of different diseases that can present with distinct clinical features but also with overlapping signs and symptoms.
Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane
Calzoni, Enrica;Giliani, Silvia C
2020-01-01
Abstract
Inborn errors of immunity are diseases of the immune system resulting from germline mutations that alter the expression of encoded proteins or molecules. Total updated number of these distinct disorders is currently 406, with 430 different identified gene defects involved. Studies of the underlying mechanisms have contributed in better understanding the pathophysiology of the diseases, but also the complexity of the biology of the innate and adaptive immune system and its interaction with microbes. In this review we present and 24 briefly discuss Inborn Errors of Immunity caused by defects in genes encoding for receptors and protein of cellular membrane, including cytokine receptors, T cell antigen receptor (TCR) complex, cellular surface receptors or receptors signaling causing predominantly antibody deficiencies, co-stimulatory receptors and other surface molecules. These alterations impact many different biological processes of immune-system cells, including development, proliferation, activation and down-regulation of the immunological response, and result in a variety of different diseases that can present with distinct clinical features but also with overlapping signs and symptoms.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
