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

Abbas Khalili, Alessandro Plebani, Massimiliano Vitali, Hassan Abolhassani, Vassilios Lougaris, Babak Mirminachi, Nima Rezaei, Asghar Aghamohammadi
Journal of Clinical Immunology 2014 Februrary
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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