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Case Reports
. 2014 Feb;34(2):138-41.
doi: 10.1007/s10875-014-9989-3. Epub 2014 Feb 1.

Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a

Abbas Khalili  1 , Alessandro Plebani, Massimiliano Vitali, Hassan Abolhassani, Vassilios Lougaris, Babak Mirminachi, Nima Rezaei, Asghar Aghamohammadi
Affiliations
Case Reports

Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a

Abbas Khalili et al. J Clin Immunol. 2014 Feb.

Abstract

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

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