RT Journal Article
T1 Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry.
A1 Cabañero-Navalon, Marta Dafne
A1 Garcia-Bustos, Victor
A1 Nuñez-Beltran, Maria
A1 Císcar Fernández, Pascual
A1 Mateu, Lourdes
A1 Solanich, Xavier
A1 Carrillo-Linares, Juan Luis
A1 Robles-Marhuenda, Ángel
A1 Puchades-Gimeno, Francesc
A1 Pelaez Ballesta, Ana
A1 López-Osle, Nuria
A1 Torralba-Cabeza, Miguel Ángel
A1 Bielsa Masdeu, Ana María
A1 Diego Gil, Jorge
A1 Tornador Gaya, Nuria
A1 Pascual Castellanos, Guillem
A1 Sánchez-Martínez, Rosario
A1 Barragán-Casas, José Manuel
A1 González-García, Andrés
A1 Patier de la Peña, José Luís
A1 López-Wolf, Daniel
A1 Mora Rufete, Antonia
A1 Canovas Mora, Alba
A1 Forner Giner, Maria José
A1 Moral Moral, Pedro
K1 CVID
K1 cohort
K1 common variable immunodeficiency
K1 dysimmunity
K1 immune dysregulation
K1 lymphoproliferation
AB Common 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.
YR 2022
FD 2022-10-28
LK http://hdl.handle.net/10668/20595
UL http://hdl.handle.net/10668/20595
LA en
DS RISalud
RD Apr 17, 2025