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The Expanding Spectrum of NFkB1 Deficiency


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]

Type Journal
Authors Bryant, V.; Tangye, SG.;
Responsible Garvan Author Prof Stuart Tangye
Published Date 2016-08-01
Published Issue 36
Published Pages 531-532
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version