The genetic heterogeneity of common variable immunodeficiency (CVID)

Document Type: Review


Pediatrics Clinic and Institute of Molecular Medicine “A. Nocivelli”, University of Brescia, Piazzale Spedali Civili 1, 25123, Brescia, ITALY



Common Variable Immunodeficiency (CVID) represents the most frequent symptomatic primary humoral immunodeficiency. Clinical presentation includes hypogammaglobulinemia, recurrent infections, autoimmune phaenomena and increased lymphoma and cancer risk. While the first cases were reported in the early 50’s, the first genetic cause of CVID was described after 5 decades. After the first description, and also thanks to the advances in the field of biomedical research, several additional genetic causes of CVID have been described. The current genetic landscape of CVID includes numerous genetic alterations that may cause or contribute to the development of CVID, underscoring the complexity and heterogeneity of this disorder.