Loss-of-Function Mutations in the IL-21 Receptor Gene Cause a Primary Immunodeficiency Syndrome

Abstract

D Kotlarz, N Zietara, G Uzel. J Exp Med. 2013;210(3):433–443 This report of 2 unrelated kindreds with newly recognized mutations in the inteleukin-21 receptor gene (IL-21R) highlights the molecular basis and phenotype of a new form of immunodeficiency. Two sets of kindreds were studied. The first set included a 4-year-old boy and a 10-year-old sister born from consanguineous Lebanese parents with phenotypes characterized by recurrent respiratory infections and chronic cryptosporidial gastrointestinal infection and associated chronic cholangitis, biliary fibrosis, and cirrhosis. A second unrelated set included an 8-year-old boy and a 13-year-old …