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...
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| Format: | Article |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033666/full |
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| author | Marta Dafne Cabañero-Navalon Victor Garcia-Bustos Maria Nuñez-Beltran Pascual Císcar Fernández Lourdes Mateu Xavier Solanich Juan Luis Carrillo-Linares Ángel Robles-Marhuenda Francesc Puchades-Gimeno Ana Pelaez Ballesta Nuria López-Osle Miguel Ángel Torralba-Cabeza Ana María Bielsa Masdeu Jorge Diego Gil Nuria Tornador Gaya Guillem Pascual Castellanos Rosario Sánchez-Martínez José Manuel Barragán-Casas Andrés González-García José Luís Patier de la Peña Daniel López-Wolf Antonia Mora Rufete Alba Canovas Mora Maria José Forner Giner Pedro Moral Moral |
| author_facet | Marta Dafne Cabañero-Navalon Victor Garcia-Bustos Maria Nuñez-Beltran Pascual Císcar Fernández Lourdes Mateu Xavier Solanich Juan Luis Carrillo-Linares Ángel Robles-Marhuenda Francesc Puchades-Gimeno Ana Pelaez Ballesta Nuria López-Osle Miguel Ángel Torralba-Cabeza Ana María Bielsa Masdeu Jorge Diego Gil Nuria Tornador Gaya Guillem Pascual Castellanos Rosario Sánchez-Martínez José Manuel Barragán-Casas Andrés González-García José Luís Patier de la Peña Daniel López-Wolf Antonia Mora Rufete Alba Canovas Mora Maria José Forner Giner Pedro Moral Moral |
| author_sort | Marta Dafne Cabañero-Navalon |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T08:24:30Z |
| format | Article |
| id | doaj.art-4379205b098449cdbef73e4373a3f6d5 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-11T08:24:30Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-4379205b098449cdbef73e4373a3f6d52022-12-22T04:34:49ZengFrontiers Media S.A.Frontiers in Immunology1664-32242022-10-011310.3389/fimmu.2022.10336661033666Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registryMarta Dafne Cabañero-Navalon0Victor Garcia-Bustos1Maria Nuñez-Beltran2Pascual Císcar Fernández3Lourdes Mateu4Xavier Solanich5Juan Luis Carrillo-Linares6Ángel Robles-Marhuenda7Francesc Puchades-Gimeno8Ana Pelaez Ballesta9Nuria López-Osle10Miguel Ángel Torralba-Cabeza11Ana María Bielsa Masdeu12Jorge Diego Gil13Nuria Tornador Gaya14Guillem Pascual Castellanos15Rosario Sánchez-Martínez16José Manuel Barragán-Casas17Andrés González-García18José Luís Patier de la Peña19Daniel López-Wolf20Antonia Mora Rufete21Alba Canovas Mora22Maria José Forner Giner23Pedro Moral Moral24Department of Internal Medicine, University and Polytechnic Hospital LaFe, Valencia, SpainDepartment of Internal Medicine, University and Polytechnic Hospital LaFe, Valencia, SpainDepartment of Internal Medicine, University and Polytechnic Hospital LaFe, Valencia, SpainDepartment of Internal Medicine, University and Polytechnic Hospital LaFe, Valencia, SpainDepartment of Internal Medicine, Germans Trias i Pujol University Hospital, Badalona, SpainDepartment of Internal Medicine, Bellvitge University Hospital, Barcelona, SpainDepartment of Internal Medicine, Virgen de la Victoria University Hospital, Málaga, SpainDepartment of Internal Medicine, La Paz University Hospital, Madrid, Madrid, SpainDepartment of Internal Medicine, University General Hospital of Valencia, Valencia, SpainDepartment of Internal Medicine, Rafael Méndez University Hospital, Murcia, SpainDepartment of Internal Medicine, Cruces University Hospital, Bizkaia, SpainDepartment of Internal Medicine, Lozano Blesa University Clinical Hospital, Zaragoza, Spain0Department of Internal Medicine, Miguel Servet University Hospital, Zaragoza, Spain1Department of Internal Medicine, University Hospital October 12, Madrid, Spain2Department of Internal Medicine, University General Hospital of Castellón, Castellón, Spain2Department of Internal Medicine, University General Hospital of Castellón, Castellón, Spain3Department of Internal Medicine, University General Hospital of Alicante, Alicante, Spain4Department of Internal Medicine, Complejo Asistencial de Ávila, Ávila, Spain5Department of Internal Medicine, Santiago Ramón y Cajal University Hospital, Madrid, Spain5Department of Internal Medicine, Santiago Ramón y Cajal University Hospital, Madrid, Spain6Department of Internal Medicine, University Hospital Alcorcón Foundation, Madrid, Spain7Department of Internal Medicine, General University Hospital of Elche, Alicante, Spain7Department of Internal Medicine, General University Hospital of Elche, Alicante, Spain8Department of Internal Medicine, Clinical University Hospital of Valencia, Valencia, SpainDepartment of Internal Medicine, University and Polytechnic Hospital LaFe, Valencia, SpainCommon 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.https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033666/fullcommon variable immunodeficiencyCVIDcohortdysimmunityimmune dysregulationlymphoproliferation |
| spellingShingle | Marta Dafne Cabañero-Navalon Victor Garcia-Bustos Maria Nuñez-Beltran Pascual Císcar Fernández Lourdes Mateu Xavier Solanich Juan Luis Carrillo-Linares Ángel Robles-Marhuenda Francesc Puchades-Gimeno Ana Pelaez Ballesta Nuria López-Osle Miguel Ángel Torralba-Cabeza Ana María Bielsa Masdeu Jorge Diego Gil Nuria Tornador Gaya Guillem Pascual Castellanos Rosario Sánchez-Martínez José Manuel Barragán-Casas Andrés González-García José Luís Patier de la Peña Daniel López-Wolf Antonia Mora Rufete Alba Canovas Mora Maria José Forner Giner Pedro Moral Moral Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry Frontiers in Immunology common variable immunodeficiency CVID cohort dysimmunity immune dysregulation lymphoproliferation |
| 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 | common variable immunodeficiency CVID cohort dysimmunity immune dysregulation lymphoproliferation |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033666/full |
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