Autosomal Recessive Agammaglobulinemia: The Third Case of Ig beta Deficiency Due to a Novel Non-sense Mutation

作者：Lougaris Vassilios^*; Vitali Massimiliano; Baronio Manuela; Moratto Daniele; Tampella Giacomo; Biasini Augusto; Badolato Raffaele; Plebani Alessandro

来源：Journal of Clinical Immunology, 2014, 34(4): 425-427.

DOI：10.1007/s10875-014-0033-4

• pre-BCR
• Ig beta
• autosomal recessive
• agammaglobulinemia

This study describes the third case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in Ig beta presenting with neutropenia, ecthyma and mild respiratory infections.

• 出版日期2014-5