Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency
<b>Background</b>: Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI) in adulthood. Other than recurrent infections, CVID may present with non-infectious complications such as enteropathy, lymphoproliferation, malignancy, and autoimmun...
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2025-02-01
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| author | Maria Giovanna Danieli Giuseppe Murdaca Cristina Mezzanotte Ilaria Claudi Elena Buti Matteo Martini Maria Beatrice Bilò Sebastiano Gangemi Gianluca Moroncini |
| author_facet | Maria Giovanna Danieli Giuseppe Murdaca Cristina Mezzanotte Ilaria Claudi Elena Buti Matteo Martini Maria Beatrice Bilò Sebastiano Gangemi Gianluca Moroncini |
| author_sort | Maria Giovanna Danieli |
| collection | DOAJ |
| description | <b>Background</b>: Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI) in adulthood. Other than recurrent infections, CVID may present with non-infectious complications such as enteropathy, lymphoproliferation, malignancy, and autoimmune diseases. Patients could have a single autoimmune disease (monoautoimmunity) or two or more autoimmune diseases (overt polyautoimmunity). “Latent polyautoimmunity” corresponds to the presence of autoantibodies without a clinically evident autoimmune disease. <b>Methods</b>: The aim of this retrospective study was to describe autoimmunity and polyautoimmunity in a population of 81 CVID adult patients, enrolled from January 2008 to July 2022 (mean follow-up: 8.5 years). <b>Results</b>: We documented at least one autoimmune disorder in 40 patients (49.4%). Moreover, 15 subjects (37.5% of patients with autoimmunity and 18.5% of all CVID population) presented polyautoimmunity. Despite the humoral immune deficiency, we detected different autoantibodies in CVID patients with or without a concomitant autoimmune disease. In both groups with monoautoimmunity and polyautoimmunity, cytopenias were the most common manifestation. Conversely, enteropathy was recorded only in patients with polyautoimmunity (27%, <i>p</i> = 0.006). Patients with polyautoimmunity showed a significantly lower mean age at diagnosis (−12 years, <i>p</i> = 0.018) compared to those with monoautoimmunity. We documented a higher frequency of autoimmunity in CVID patients who had increased diagnostic (+5.6 years) and therapeutic (+7.2 years) delay (<i>p</i> = 0.093 and 0.054, respectively). <b>Conclusions</b>: Polyautoimmunity is a frequent condition in patients affected by CVID. An early start of Ig replacement therapy could help prevent autoimmune complications. |
| format | Article |
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| institution | OA Journals |
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| language | English |
| publishDate | 2025-02-01 |
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| series | Biomedicines |
| spelling | doaj-art-df46a04990be4f4a9e227dbeef02b3802025-08-20T02:11:04ZengMDPI AGBiomedicines2227-90592025-02-0113355210.3390/biomedicines13030552Polyautoimmunity Reflecting Immune Dysregulation in Common Variable ImmunodeficiencyMaria Giovanna Danieli0Giuseppe Murdaca1Cristina Mezzanotte2Ilaria Claudi3Elena Buti4Matteo Martini5Maria Beatrice Bilò6Sebastiano Gangemi7Gianluca Moroncini8SOS Immunologia delle Malattie Rare e dei Trapianti, SOD Clinica Medica, Dipartimento di Medicina Interna, Azienda Ospedaliero Universitaria delle Marche, 60126 Ancona, ItalyDepartment of Internal Medicine, University of Genoa, 16132 Genoa, ItalyUO Medicina Interna, Azienda Sanitaria Territoriale Pesaro Urbino, 61032 Fano, ItalyPostgraduate School in Allergology and Clinical Immunology, Università Politecnica delle Marche, 60126 Ancona, ItalyPostgraduate School in Allergology and Clinical Immunology, Università Politecnica delle Marche, 60126 Ancona, ItalySOSD Allergologia, Dipartimento di Medicina Interna, Azienda Ospedaliero Universitaria delle Marche, 60126 Ancona, ItalyDepartment of Clinical and Molecular Sciences, Marche Polytechnic University, 60126 Ancona, ItalyOperative Unit of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University of Messina, Via Consolare Valeria 1, 98125 Messina, ItalyDepartment of Clinical and Molecular Sciences, Marche Polytechnic University, 60126 Ancona, Italy<b>Background</b>: Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI) in adulthood. Other than recurrent infections, CVID may present with non-infectious complications such as enteropathy, lymphoproliferation, malignancy, and autoimmune diseases. Patients could have a single autoimmune disease (monoautoimmunity) or two or more autoimmune diseases (overt polyautoimmunity). “Latent polyautoimmunity” corresponds to the presence of autoantibodies without a clinically evident autoimmune disease. <b>Methods</b>: The aim of this retrospective study was to describe autoimmunity and polyautoimmunity in a population of 81 CVID adult patients, enrolled from January 2008 to July 2022 (mean follow-up: 8.5 years). <b>Results</b>: We documented at least one autoimmune disorder in 40 patients (49.4%). Moreover, 15 subjects (37.5% of patients with autoimmunity and 18.5% of all CVID population) presented polyautoimmunity. Despite the humoral immune deficiency, we detected different autoantibodies in CVID patients with or without a concomitant autoimmune disease. In both groups with monoautoimmunity and polyautoimmunity, cytopenias were the most common manifestation. Conversely, enteropathy was recorded only in patients with polyautoimmunity (27%, <i>p</i> = 0.006). Patients with polyautoimmunity showed a significantly lower mean age at diagnosis (−12 years, <i>p</i> = 0.018) compared to those with monoautoimmunity. We documented a higher frequency of autoimmunity in CVID patients who had increased diagnostic (+5.6 years) and therapeutic (+7.2 years) delay (<i>p</i> = 0.093 and 0.054, respectively). <b>Conclusions</b>: Polyautoimmunity is a frequent condition in patients affected by CVID. An early start of Ig replacement therapy could help prevent autoimmune complications.https://www.mdpi.com/2227-9059/13/3/552antinuclear antibodiesautoantibodiesautoimmune diseaseautoimmunitycommon variable immunodeficiencyimmune dysregulation |
| spellingShingle | Maria Giovanna Danieli Giuseppe Murdaca Cristina Mezzanotte Ilaria Claudi Elena Buti Matteo Martini Maria Beatrice Bilò Sebastiano Gangemi Gianluca Moroncini Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency Biomedicines antinuclear antibodies autoantibodies autoimmune disease autoimmunity common variable immunodeficiency immune dysregulation |
| title | Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency |
| title_full | Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency |
| title_fullStr | Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency |
| title_full_unstemmed | Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency |
| title_short | Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency |
| title_sort | polyautoimmunity reflecting immune dysregulation in common variable immunodeficiency |
| topic | antinuclear antibodies autoantibodies autoimmune disease autoimmunity common variable immunodeficiency immune dysregulation |
| url | https://www.mdpi.com/2227-9059/13/3/552 |
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