案例报告:p40 缺陷是儿科发作的系统性红血性狼的基础
Alejandro Nieto-Patlán1, Natalia S Fernández Dávila1, Yuqing Wang2
1Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
儿科系统性红斑狼 (pSLE) 早期发病表明遗传原因. 这一案例突显了因NCF4变异而导致的自体递归的p40缺乏症,影响NADPH氧化酶活性并导致严重的自身免疫.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 系统性红斑狼 (SLE) 是一种复杂的自身免疫性疾病.
- 儿科SLE (pSLE) 在青春期前发病很少见,并表明潜在的遗传因素.
- p40缺乏症是一种不常见的免疫性疾病,影响NADPH氧化酶活性和活性氧物种 (ROS) 生产.
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