RAC2 mutations and immune deficiency – functional spectrum of an international cohort
Clinical Immunology(2023)
摘要
Mutations in RAC2 were first identified in neonates carrying RAC2 dominant negative p.D57N, who presented with severe neutrophil defects and T-cell lymphopenia. Subsequently, dominant-activating mutations were reported in patients with combined immunodeficiency/immunodysregulation (CIID) or severe combined immunodeficiency (SCID). We assembled an international cohort of 48 published and unpublished patients with RAC2 mutations to characterize the spectrum of disease.
更多查看译文
关键词
immune deficiency,mutations
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要