Autosomal Recessive Agammaglobulinemia: A Novel Non-sense Mutation in CD79a

作者:Khalili Abbas; Plebani Alessandro; Vitali Massimiliano; Abolhassani Hassan; Lougaris Vassilios; Mirminachi Babak; Rezaei Nima; Aghamohammadi Asghar*
来源:Journal of Clinical Immunology, 2014, 34(2): 138-141.
DOI:10.1007/s10875-014-9989-3

摘要

This study describes the fifth case worldwide of autosomal recessive agammaglobulinemia due to a novel nonsense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.

  • 出版日期2014-2