Alkhairy Omar K, Rezaei Nima, Graham Robert R, Abolhassani Hassan, Borte Stephan, Hultenby Kjell, Wu Chenglin, Aghamohammadi Asghar, Williams David A, Behrens Timothy W, Hammarström Lennart, Pan-Hammarström Qiang
Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Research Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
J Allergy Clin Immunol. 2015 May;135(5):1380-4.e1-5. doi: 10.1016/j.jaci.2014.10.039. Epub 2014 Dec 12.
We report the first patients with a homozygous loss of function mutation in the gene, presenting with clinical features of common variable immunodeficiency. In addition, the patients suffered from glomerulonephritis, coagulopathy, multiple hormone deficiencies potentially on the autoimmune basis and abnormalities of neutrophil granules.
我们报告了首例该基因功能缺失纯合突变的患者,其表现出常见变异型免疫缺陷的临床特征。此外,这些患者还患有肾小球肾炎、凝血病、可能基于自身免疫的多种激素缺乏以及中性粒细胞颗粒异常。