CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population

Abstract

The clinical presentation of CD21 deficiency in 2 siblings caused by a novel mutation in the CD21 gene is reported, and the frequency of this mutation in the Danish population is explored. Successful treatment with IgG replacement in both patients with CD21 deficiency is also reported.

Keywords

• Immunodeficiency
• CD21
• clinical presentation
• novel mutation
• allele frequency
• immunoglobulin replacement therapy