Abstract
General variable immunodeficiency (general variable immune deficiency) is a primary immunodeficiency characterized by impaired antibody differentiation, decreased response to vaccination and resistance to infections. The disease is the most clinically significant of the immunodeficiency disorders, as it manifests itself in a variety of clinical symptoms and can start at any age, men and women are equally ill. Most often, sporadic mutations or the effects of epigenetic factors are at the heart of development, and it is often not possible to identify a causally significant gene during genetic testing. Family history, as a rule, is not burdened. OVIN is characterized by a variety of clinical manifestations, which in most patients are represented by recurrent infections. About half of the patients also have signs of impaired immune regulation, leading to autoimmune, various inflammatory or malignant diseases: chronic lung diseases, gastrointestinal disorders, liver diseases, granulomatous infiltrates of several organs, lymphoid hyperplasia, splenomegaly or malignant neoplasms. OVIN may be manifested by violations of one of these categories, or a combination of violations of several of them. The most common are pneumonia, autoimmune diseases, splenomegaly and bronchiectasis. Diagnosis of OVIN is often delayed, which leads to untimely treatment and the development of complications. Using the example of a clinical case identified in Omsk, it is demonstrated how important the awareness of doctors of various profiles about OVIN is, and how underdiagnoses worsens the duration and quality of life of patients.
Keywords: general variable immunodeficiency, primary immunodeficiency, antibodies, recurrent infections.
Keywords: general variable immunodeficiency, primary immunodeficiency, antibodies, recurrent infections.
For citation:Lepekhina E.S., Nadey E.V., Usacheva E.V. A clinical case of a patient with common variable immune deficiency. Clinical review for general practice. 2024; 5 (10): 129–132 (In Russ.). DOI: 10.47407/kr2024.5.10.00507
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