The mechanism for combined immunodeficiency and autoimmunity due to STK4-deficiency and its broader application to human PIDs

STK4 缺陷引起的联合免疫缺陷和自身免疫的机制及其在人类 PID 中的更广泛应用

• 批准号: nhmrc : 1139865
• 负责人: A/Pr Tri Phan
• 金额: $ 43.84万
• 依托单位: Garvan Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/mechanism-combined-immunodeficiency-human-pids/1319113
• 关键词: mechanism; combined; immunodeficiency; autoimmunity; due

Why do some patients develop autoimmune diseases such as lupus where the immune system makes antibodies that attack its own body? To answer this, we plan to study a disease where a gene responsible for making antibodies is defective. Patients with mutations in the STK4 gene are unable to regulate the selection processes by which only the right cell is chosen to make antibodies. Understanding how STK4 works may help us unlock the mystery of what causes lupus.

为什么有些患者会患上自身免疫性疾病，如狼疮，免疫系统会产生攻击自己身体的抗体？为了回答这个问题，我们计划研究一种疾病，其中负责制造抗体的基因是有缺陷的。STK4基因突变的患者无法调节选择过程，只有正确的细胞被选择来制造抗体。了解STK4的工作原理可能有助于我们解开狼疮病因之谜。