Common variable immunodeficiency from the perspective of rheumatology

Yıl 2022, , 534 - 538, 15.03.2022

Tuba Yuce Inel , Gercek Can

https://doi.org/10.32322/jhsm.1053500

Öz

Aim: Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired B cell differentiation and immunoglobulin production. In addition to increased susceptibility to infection, patients with CVID have an increased tendency to autoimmune disease. Immune dysregulation in these patients may lead to granulomatous disease, malignancy, allergy and autoimmune manifestations. In this study, it was aimed to increase the awareness of rheumatologists about the main signs and symptoms of CVID.
Material and Method: Adult patients followed in the rheumatology department between January 2015 and September 2021 were included in the study. Demographic and clinical characteristics (infections, pulmonary and extrapulmonary granulomatous involvement, autoimmune manifestations), laboratory and imaging findings and treatments of the patients were analyzed.
Results: Ten adult patients with CVID were included in the study. At least one autoimmune manifestation was observed in 80% of the patients. In the follow-up period, 40% of the patients developed arthritis. Involvement of lower extremity joints such as knee and ankle was more prominent. While all patients were given 0.8 g/kg/3 weeks of intravenous immunoglobulin, 80% required immunosuppressive therapy for autoimmune manifestations.
Conclusion: Autoimmune diseases can be seen in patients with CVID, and sometimes this may be the first presentation of CVID. Heterogeneous clinical findings of the disease may lead to delay in diagnosis. Clinicians should be more careful about the different manifestations of CVID to avoid delay in diagnosis.

Anahtar Kelimeler

Common variable immunodeficiency, arthritis, autoimmunity

Kaynakça

• Valizadeh A, Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A. A comparison of clinical and immunologic phenotypes in familial and sporadic forms of common variable immunodeficiency. Scand J Immunol 2017; 86: 239-47.
• Yazdani R, Ganjalikhani-Hakemi M, Esmaeili M, et al. Impaired Akt phosphorylation in B-cells of patients with common variable immunodeficiency. Clin Immunol 2017; 175: 124-32.
• Azizi G, Abolhassani H, Kiaee F, et al. Autoimmunity and its association with regulatory T cells and B cell subsets in patients with common variable immunodeficiency. Allergol Immunopathol (Madr) 2018; 46: 127-35.
• Azizi G, Kiaee F, Hedayat E, et al. Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency. Scand J Immunol 2018; 87: e12663.
• Manesh AT, Azizi G, Heydari A, et al. Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? Allergol Immunopathol (Madr) 2017; 45: 602-15.
• Azizi G, Tavakol M, Rafiemanesh H, et al. Autoimmunity in a cohort of 471 patients with primary antibody deficiencies. Exp Rev Clin Immunol 2017; 13: 1099-106.
• Blancas-Galicia L, Ramírez-Vargas NG, Espinosa-Rosales F. Common variable immunodeficiency. A clinical aproach. Revista de Investigación Clínica 2010; 62: 577-82.
• Gereige JD, Maglione PJ. Current understanding and recent developments in common variable immunodeficiency associated autoimmunity. Front Immunol 2019; 10: 2753.
• Boileau J, Mouillot G, Gérard L, et al. Autoimmunity in common variable immunodeficiency: correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun 2011; 36: 25-32.
• Baldovino S, Montin D, Martino S, Sciascia S, Menegatti E, Roccatello D. Common variable immunodeficiency: crossroads between infections, inflammation and autoimmunity. Autoimmun Rev 2013; 12: 796-801.
• Ameratunga R, Woon ST, Gillis D, Koopmans W, Steele R. New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol 2013; 174: 203-11.
• Azizi G, Ziaee V, Tavakol M, et al. Approach to the management of autoimmunity in primary immunodeficiency. Scand J Immunol 2017; 85: 13-29.
• Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008; 112: 277-86.
• Cunningham-Rundles C. How I treat common variable immune deficiency. Blood 2010; 116: 7-15.
• Abolhassani, H., Amirkashani, D., Parvaneh, N. et al. Autoimmune phenotype in patients with common variable immunodeficiency. J Investig Allergol Clin Immunol 2013; 23: 323-9.
• López-Aldabe K, Hidalgo L, Antolí A, Rocamora G, Corbella X, Solanich X. Op0004 Autoimmune and inflammatory manifestations in common variable immunodeficiency disorders. Ann Rheumat Dis 2021; 80: 1-2.
• Verbsky JW, Routes JM. Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med 2014; 35: 330-5.
• Amer, R., Bamonte, G., Forrester, J.V. Resolution of juvenile idiopathic arthritis-associated uveitis after development of common variable immunodeficiency. SAGE Publications Sage UK: London, England 2007.
• Lin LH, Tsai CN, Liu MF, Wang CR. Common variable immunodeficiency mimicking rheumatoid arthritis with Sjögren's syndrome. J Microbiol Immunol Infect 2005; 38: 358-60.
• Fernández-Castro M, Mellor-Pita S, Citores MJ, et al. Common variable immunodeficiency in systemic lupus erythematosus. Semin Arthritis Rheum 2007; 36: 238-45.
• Brandt D, Gershwin ME. Common variable immune deficiency and autoimmunity. Autoimmun Rev 2006; 5: 465-70.
• Swierkot J, Lewandowicz-Uszynska A, Chlebicki A, et al. Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. Clin Rheumatol 2006; 25: 92-4.
• Cunningham-Rundles, C. and Bodian, C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999; 92: 34-48.
• Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012; 119: 1650-57.
• Samuels J, Ng YS, Paget D, Meffre E. Impaired early B-cell tolerance in patients with rheumatoid arthritis. Arthritis Res Ther 2005; 7: 1-2.