Cabañero Navalon, Marta DafneGarcia Bustos, VictorNuñez Beltran, MariaCíscar Fernández, PascualMateu, LourdesSolanich, XavierCarrillo Linares, Juan LuisRobles Marhuenda, ÁngelPuchades Gimeno, FrancescPelaez Ballesta, AnaLópez Osle, NuriaTorralba Cabeza, Miguel ÁngelBielsa Masdeu, Ana MaríaDiego Gil, JorgeTornador Gaya, NuriaPascual Castellanos, GuillemSánchez, XaroBarragán Casas, José ManuelGonzález García, AndrésPatier De La Peña, José LuísLópez Wolf, DanielMora Rufete, AntoniaCanovas Mora, AlbaForner Giner, Maria JoséMoral Moral, Pedro2022-12-162022-12-162022-10-281664-3224https://hdl.handle.net/2445/191646Common variable immunodeficiency (CVID) constitutes a heterogenic group of primary immunodeficiency disorders with a wide-ranging clinical spectrum. CVID-associated non-infectious morbidity constitutes a major challenge requiring a full understanding of its pathophysiology and its clinical importance and global variability, especially considering the broad clinical, genetic, and regional heterogeneity of CVID disorders. This work aimed to develop a nationwide, multicenter, retrospective study over a 3-year period describing epidemiological, clinical, laboratory, therapeutic, and prognostic features of 250 CVID patients in Spain. The mean diagnostic delay was around 10 years and most patients initially presented with infectious complications followed by non-infectious immune disorders. However, infectious diseases were not the main cause of morbimortality. Non-infectious lung disease was extraordinarily frequent in our registry affecting approximately 60% of the patients. More than one-third of the patients in our cohort showed lymphadenopathies and splenomegaly in their follow-up, and more than 33% presented immune cytopenias, especially Evans' syndrome. Gastrointestinal disease was observed in more than 40% of the patients. Among biopsied organs in our cohort, benign lymphoproliferation was the principal histopathological alteration. Reaching 15.26%, the global prevalence of cancer in our registry was one of the highest reported to date, with non-Hodgkin B lymphoma being the most frequent. These data emphasize the importance of basic and translational research delving into the pathophysiological pathways involved in immune dysregulation and diffuse lymphocytic infiltration. This would reveal new tailored strategies to reduce immune complications, and the associated healthcare burden, and ensure a better quality of life for CVID patients.11 p.application/pdfengcc by (c) Cabañero Navalon, Marta Dafne et al., 2022http://creativecommons.org/licenses/by/3.0/es/ImmunodeficiènciaLimfomesImmunodeficiencyLymphomasinfo:eu-repo/semantics/article2022-12-07info:eu-repo/semantics/openAccess36389743