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Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry
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 importanc...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650514/ https://www.ncbi.nlm.nih.gov/pubmed/36389743 http://dx.doi.org/10.3389/fimmu.2022.1033666 |
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author | Cabañero-Navalon, Marta Dafne Garcia-Bustos, Victor Nuñez-Beltran, Maria Císcar Fernández, Pascual Mateu, Lourdes Solanich, Xavier Carrillo-Linares, Juan Luis Robles-Marhuenda, Ángel Puchades-Gimeno, Francesc Pelaez Ballesta, Ana López-Osle, Nuria Torralba-Cabeza, Miguel Ángel Bielsa Masdeu, Ana María Diego Gil, Jorge Tornador Gaya, Nuria Pascual Castellanos, Guillem Sánchez-Martínez, Rosario Barragán-Casas, José Manuel González-García, Andrés Patier de la Peña, José Luís López-Wolf, Daniel Mora Rufete, Antonia Canovas Mora, Alba Forner Giner, Maria José Moral Moral, Pedro |
author_facet | Cabañero-Navalon, Marta Dafne Garcia-Bustos, Victor Nuñez-Beltran, Maria Císcar Fernández, Pascual Mateu, Lourdes Solanich, Xavier Carrillo-Linares, Juan Luis Robles-Marhuenda, Ángel Puchades-Gimeno, Francesc Pelaez Ballesta, Ana López-Osle, Nuria Torralba-Cabeza, Miguel Ángel Bielsa Masdeu, Ana María Diego Gil, Jorge Tornador Gaya, Nuria Pascual Castellanos, Guillem Sánchez-Martínez, Rosario Barragán-Casas, José Manuel González-García, Andrés Patier de la Peña, José Luís López-Wolf, Daniel Mora Rufete, Antonia Canovas Mora, Alba Forner Giner, Maria José Moral Moral, Pedro |
author_sort | Cabañero-Navalon, Marta Dafne |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9650514 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-96505142022-11-15 Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry Cabañero-Navalon, Marta Dafne Garcia-Bustos, Victor Nuñez-Beltran, Maria Císcar Fernández, Pascual Mateu, Lourdes Solanich, Xavier Carrillo-Linares, Juan Luis Robles-Marhuenda, Ángel Puchades-Gimeno, Francesc Pelaez Ballesta, Ana López-Osle, Nuria Torralba-Cabeza, Miguel Ángel Bielsa Masdeu, Ana María Diego Gil, Jorge Tornador Gaya, Nuria Pascual Castellanos, Guillem Sánchez-Martínez, Rosario Barragán-Casas, José Manuel González-García, Andrés Patier de la Peña, José Luís López-Wolf, Daniel Mora Rufete, Antonia Canovas Mora, Alba Forner Giner, Maria José Moral Moral, Pedro Front Immunol Immunology 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. Frontiers Media S.A. 2022-10-28 /pmc/articles/PMC9650514/ /pubmed/36389743 http://dx.doi.org/10.3389/fimmu.2022.1033666 Text en Copyright © 2022 Cabañero-Navalon, Garcia-Bustos, Nuñez-Beltran, Císcar Fernández, Mateu, Solanich, Carrillo-Linares, Robles-Marhuenda, Puchades-Gimeno, Pelaez Ballesta, López-Osle, Torralba-Cabeza, Bielsa Masdeu, Diego Gil, Tornador Gaya, Pascual Castellanos, Sánchez-Martínez, Barragán-Casas, González-García, Patier de la Peña, López-Wolf, Mora Rufete, Canovas Mora, Forner Giner and Moral Moral https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Cabañero-Navalon, Marta Dafne Garcia-Bustos, Victor Nuñez-Beltran, Maria Císcar Fernández, Pascual Mateu, Lourdes Solanich, Xavier Carrillo-Linares, Juan Luis Robles-Marhuenda, Ángel Puchades-Gimeno, Francesc Pelaez Ballesta, Ana López-Osle, Nuria Torralba-Cabeza, Miguel Ángel Bielsa Masdeu, Ana María Diego Gil, Jorge Tornador Gaya, Nuria Pascual Castellanos, Guillem Sánchez-Martínez, Rosario Barragán-Casas, José Manuel González-García, Andrés Patier de la Peña, José Luís López-Wolf, Daniel Mora Rufete, Antonia Canovas Mora, Alba Forner Giner, Maria José Moral Moral, Pedro Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry |
title | Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry |
title_full | Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry |
title_fullStr | Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry |
title_full_unstemmed | Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry |
title_short | Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry |
title_sort | current clinical spectrum of common variable immunodeficiency in spain: the multicentric nationwide gtem-semi-cvid registry |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650514/ https://www.ncbi.nlm.nih.gov/pubmed/36389743 http://dx.doi.org/10.3389/fimmu.2022.1033666 |
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