Alejandro Segura-Tudela, Marta López-Nevado, Celia Nieto-López, Sandra García-Jiménez, María J Díaz-Madroñero, Ángeles Delgado, Oscar Cabrera-Marante, Daniel Pleguezuelo, Pablo Morales, Estela Paz-Artal, Jorge Gil-Niño, Francisco M Marco, Cristina Serrano, Luis I González-Granado, Juan F Quesada-Espinosa, Luis M Allende
Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious diseases, as well as autoimmune, autoinflammatory, allergic, and malignant phenotypes that usually appear in childhood, which is when the diagnosis is typically made. However, some IEI patients are identified in adulthood due to symptomatic delay of the disease or other reasons that prevent the request for a molecular study...
February 16, 2024: Journal of Clinical Immunology