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Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.

Vassilios Lougaris, Massimiliano Vitali, Manuela Baronio, Daniele Moratto, Giacomo Tampella, Augusto Biasini, Raffaele Badolato, Alessandro Plebani
Journal of Clinical Immunology 2014 May
This study describes the third case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in Igβ presenting with neutropenia, ecthyma and mild respiratory infections.

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