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Multicenter Study
. 2022 Oct 28:13:1033666.
doi: 10.3389/fimmu.2022.1033666. eCollection 2022.

Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry

Marta Dafne Cabañero-Navalon  1 , Victor Garcia-Bustos  1 , Maria Nuñez-Beltran  1 , Pascual Císcar Fernández  1 , Lourdes Mateu  2 , Xavier Solanich  3 , Juan Luis Carrillo-Linares  4 , Ángel Robles-Marhuenda  5 , Francesc Puchades-Gimeno  6 , Ana Pelaez Ballesta  7 , Nuria López-Osle  8 , Miguel Ángel Torralba-Cabeza  9 , Ana María Bielsa Masdeu  10 , Jorge Diego Gil  11 , Nuria Tornador Gaya  12 , Guillem Pascual Castellanos  12 , Rosario Sánchez-Martínez  13 , José Manuel Barragán-Casas  14 , Andrés González-García  15 , José Luís Patier de la Peña  15 , Daniel López-Wolf  16 , Antonia Mora Rufete  17 , Alba Canovas Mora  17 , Maria José Forner Giner  18 , Pedro Moral Moral  1
Affiliations
Multicenter Study

Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry

Marta Dafne Cabañero-Navalon et al. Front Immunol. .

Abstract

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.

Keywords: CVID; cohort; common variable immunodeficiency; dysimmunity; immune dysregulation; lymphoproliferation.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Summary of major comorbidities of the CVID patients included in the GTEM-SEMI-CVID Registry. Pop., number of patients for whom information on the specified variable was available.
Figure 2
Figure 2
Summary of main immune complications of the CVID patients included in the GTEM-SEMI-CVID Registry. CNS, central nervous system. Pop., number of patients for whom information on the specified variable was available.
See this image and copyright information in PMC

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