Genetic Analysis of Patients With Common Variable Immunodeficiency Followed in the Pulmonology Department: A Report of Five Patients.

Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia, impaired vaccine response, and increased susceptibility to infections. Advances in molecular genetics have enabled the identification of monogenic forms in an increasing proportion of patients. In this study, a targeted genetic panel based on the 2022 International Union of Immunological Societies classification was performed in five patients presenting with a phenotype compatible with CVID. A genetic abnormality was identified in two (40%) patients, including a variant in the NFKB1 gene in one patient and variants in the CD3G and IL7R genes in another. No detectable genetic abnormalities were found in three (60%) patients. These results are consistent with the marked genetic heterogeneity of CVID and highlight the value of molecular sequencing in improving diagnostic accuracy and guiding therapeutic strategies.