Publications

Abstract

In the last 10 years, the explosion of novel genetic etiologies of primary immunodeficiencies (PIDs) has begun an evolution from a traditional broad descriptive diagnosis to a more precise gene-based diagnosis. The most prevalent PID is common variable immunodeficiency (CVID), affecting 1:25,000 individuals. CVID is a heterogeneous collection of disorders, typically diagnosed in early adulthood, with the underlying common feature of hypogammaglobulinemia and poor antibody responses to vaccination. However, 25–30 % of patients also exhibit autoimmune and/or lymphoproliferative manifestations. A genetic defect responsible for CVID has been identified in only a small proportion (10–15 %) of all patients and include mutations in genes encoding T and B cell signaling receptormolecules, such as ICOS, CD19, CD81, TNFRSF13C (encoding BAFF-R), MS4A1 encoding CD20 [1] and, more recently, NFKB1 [2] and NFKB2 [3]