从低丙种球蛋白血症到常染色体显性激活诱导胞苷脱氨酶缺陷：50 年后揭示一种遗传性免疫缺陷
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.
机构信息
Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, and Paris Diderot University, Paris, France.
Human Lymphohematopoiesis Laboratory, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France.
出版信息
J Pediatr. 2020 Aug;223:207-211.e1. doi: 10.1016/j.jpeds.2020.03.024. Epub 2020 May 15.
The genetic investigation of a family presenting with a dominant form of hyper IgM syndrome published in 1963 and 1975 revealed a R190X nonsense mutation in activation-induced cytidine deaminase. This report illustrates the progress made over 6 decades in the characterization of primary immunodeficiencies, from immunochemistry to whole-exome sequencing.
1963 年和 1975 年发表的一篇关于一个呈现显性高免疫球蛋白 M 综合征家族的遗传学研究揭示了激活诱导的胞苷脱氨酶中的 R190X 无义突变。本报告说明了在过去的 60 多年中，从免疫化学到全外显子测序，人们在原发性免疫缺陷的特征描述方面取得的进展。
Zotero 插件