Andrea Martín-Nalda, Claudia Fortuny, Lourdes Rey, Tom D Bunney, Laia Alsina, Ana Esteve-Solé, Daniel Bull, Maria Carmen Anton, María Basagaña, Ferran Casals, Angela Deyá, Marina García-Prat, Ramon Gimeno, Manel Juan, Helios Martinez-Banaclocha, Juan J Martinez-Garcia, Anna Mensa-Vilaró, Raquel Rabionet, Nieves Martin-Begue, Francesc Rudilla, Jordi Yagüe, Xavier Estivill, Vicente García-Patos, Ramon M Pujol, Pere Soler-Palacín, Matilda Katan, Pablo Pelegrín, Roger Colobran, Asun Vicente, Juan I Arostegui
Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded their phenotypes toward more complex clinical pictures associating vasculopathy, autoimmunity, or immunodeficiency. Herein, we describe two unrelated patients suffering since the neonatal period from a complex disease mainly characterized by severe sterile inflammation, recurrent bacterial infections, and marked humoral immunodeficiency...
July 15, 2020: Journal of Clinical Immunology