| Abstract [eng] |
Objective. To analyse the clinical features of primary immunodeficiencies in adults based on a literature review and selected case reports, highlighting diagnostic challenges and implications for patient care. Methodology. A qualitative analysis was performed, including a retrospective evaluation of two adult patients diagnosed with primary immunodeficiencies, alongside a systematic literature review. Case study: two clinical cases were analysed, representing the course of common variable immunodeficiency and X-linked agammaglobulinemia. Data were obtained from the archives of Vilnius University Hospital Santaros Clinics, including laboratory, imaging, and treatment data from the first diagnosis until 2024. Literature analysis: the literature review was performed using the PubMed database. The selection criteria for articles were publications in English from 2014 to 2024. Search terms included: primary immunodeficiency, common variable immunodeficiency, X-linked agammaglobulinemia and adult diagnosis. Based on the keywords and selection criteria, 36 publications were chosen for the literature review. Zotero software was used for bibliographic management. Results. The clinical course of Patient A revealed a late diagnosis of common variable immunodeficiency after oncohematological pathology, with frequent infections, respiratory complications, and successful response to immunoglobulin replacement therapy. Patient B was diagnosed with X-linked agammaglobulinemia only in adulthood. Irregular immunoglobulin replacement therapy and late disease recognition resulted in irreversible pulmonary complications and fatal respiratory failure. Conclusions. Primary immunodeficiencies in adults remain underdiagnosed due to nonspecific symptoms. Early recognition, clinical awareness, and consistent treatment are critical for successful disease control. Improving physician education and ensuring access to individualized, multidisciplinary care are essential in primary immunodeficiency management. |
