Common variable immunodeficiency: different faces of the same disease

Introduction: Common variable immunodeficiency (CVID) is one of the primary humoral immunodeficiencies. Despite the inborn nature, the first symptoms may appear in both children and adults. It is characterized by hypogam-maglobulinaemia, severe infections, autoimmunity, allergies, and a predisposition to cancer. A delay in diagnosis is a significant problem: the time from the first symptoms of the disease to diagnosis and the implementation of proper treatment is usually very long. The consequence can be irreversible complications, which is why it is so important to promote knowledge on this immunodeficiency. Aim: To present the clinical and laboratory manifestation of primary immunodeficiencies such as common variable immunodeficiency. Material and methods: The study presents the clinical and laboratory phenotype of 14 patients diagnosed with CVID, aged 5 to 58 years. A detailed medical history was taken, and clinical symptoms, immunological test results and complications were analysed in each patient. According to the ESID guidelines, in the differential diagnosis process of CVID the secondary hypogammaglobulinaemia was excluded. Results: The follow-up period ranged from 39 to 133 months (median: 79 months). The median delay for the entire group was 5 years, which was shorter in children than in adults. In the presented group, the infectious phenotype (pneumonia, sinusitis) was dominant. Autoimmune and allergic diseases, malignant tumours and enteropathies have also been observed. Conclusions: The diagnostic delay is still too long, especially in adults, which can lead to serious and irreversible complications. Early diagnosis and appropriate treatment with intravenous and subcutaneous immunoglobulins reduces the frequency of infections and their potential complications.

Automated summary

Common variable immunodeficiency (CVID) is a primary humoral immunodeficiency disease that can affect both children and adults, characterized by hypogammaglobulinemia, severe infections, autoimmunity, allergies, and susceptibility to cancer. The study shows that there is still a significant delay in diagnosis for CVID patients, especially in adults, highlighting the importance of early diagnosis and appropriate treatment to reduce the risk of infections and complications.