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

被引：0
|
作者：
Vassilios Lougaris
Massimiliano Vitali
Manuela Baronio
Daniele Moratto
Giacomo Tampella
Augusto Biasini
Raffaele Badolato
Alessandro Plebani
机构：
[1] University of Brescia,Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine “A. Nocivelli”
[2] Spedali Civili di Brescia,Maternal
[3] Pediatrics Clinic,Infantile Department
来源：
Journal of Clinical Immunology | 2014年 / 34卷
关键词：
pre-BCR; Igβ; autosomal recessive agammaglobulinemia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：425 / 427
页数：2
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