Clinicians often face challenges due to symptoms that may result from a primary inborn error of immunity. Although the genetic root of these diseases is still largely unknown, progressively an underlying genetic determinant either due to new genes or to hypomorphic genetic errors in already described genes can be revealed. Monogenic inborn errors of immunity unreveal a broad spectrum of clinical phenotype in which autoimmune and autoinflammatory disorders, due to immune dysregulation can variably be combined with infections. Paradigmatic conditions are covered in this synopsis, which main aim is to uncover the state of the art clinical point of view within the primary immunodeficiencies pathophysiological landscape.
Inborn Error of Immunity: A Journey Through Novel Genes and Clinical Presentation
Antonio Giovanni Solimando;Angelo Vacca;Domenico Ribatti
2021-01-01
Abstract
Clinicians often face challenges due to symptoms that may result from a primary inborn error of immunity. Although the genetic root of these diseases is still largely unknown, progressively an underlying genetic determinant either due to new genes or to hypomorphic genetic errors in already described genes can be revealed. Monogenic inborn errors of immunity unreveal a broad spectrum of clinical phenotype in which autoimmune and autoinflammatory disorders, due to immune dysregulation can variably be combined with infections. Paradigmatic conditions are covered in this synopsis, which main aim is to uncover the state of the art clinical point of view within the primary immunodeficiencies pathophysiological landscape.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
