| Abstract [eng] |
Objective. To review primary immunodeficiencies and their associated respiratory tract complications, as well as the specific features of diagnosis and treatment, based on literature and a clinical case. Methods. A literature review was performed using PubMed and Google Scholar. In total, 68 articles not older than 10 years were included (with the exception of relevant older publications). A clinical case was also analyzed. Literature review and clinical case: Primary immunodeficiencies are a heterogeneous group of disorders affecting immune system function. These conditions are considered rare, with the prevalence of individual forms ranging from 1:16 000 to 1:50 000, while the overall prevalence in population is approximately 1 in 1200 individuals. The most common form is humoral immunodeficiency, accounting for more than 50 % of all cases. These disorders are characterized by an increased susceptibility to recurrent, predominantly bacterial, respiratory tract infections, which over time may lead to structural lung damage such as bronchiectasis or interstitial lung disease. The literature emphasizes that diagnosis is often delayed due to nonspecific clinical presentation, and routine laboratory parameters do not always reflect functional immune deficiency; therefore, evaluation of specific antibody responses is essential. Genetic testing is also becoming increasingly important. The analyzed clinical case illustrates the complexity of diagnosing primary immunodeficiency in an adult patient, in whom an atypical clinical presentation – severe, difficult to control eosinophilic asthma and recurrent respiratory infections – predominated. Identification of a pathogenic variant in the CARD11 gene helped to explain the coexistence of eosinophilic inflammation and impaired immune response, and supported the application of individualized, multimodal treatment, which led to the stabilization of the patient’s condition and reduced progression of infectious complications. Keywords. Primary immunodeficiency, humoral deficiency, pulmonary complications, immunoglobulin replacement therapy, CARD11 mutation. |
