一例与ADA2和MEFV病原体变体相关的发烧发作和血管病变
Kerem Parlar1, Eda Tahir Turanli2,3, Eda Nuhoglu Kantarci4
1Yeditepe University School of Medicine, Istanbul, Turkey.
Modern rheumatology case reports
|August 5, 2023
概括
这项研究报告了第二例患有腺氨酸脱氨酶2 (DADA2) 缺乏症和家族地中海热 (FMF) 的病例. 患者出现重叠的症状,并对治疗有反应,突出显示罕见的遗传重叠.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 免疫学 免疫学 免疫学
- 类风湿病学 类风湿病学
背景情况:
- 氨酸脱氨酶2 (DADA2) 缺乏症是一种由ADA2基因突变引起的自体逆向性疾病,导致血管炎.
- 家庭地中海热 (FMF) 是一种由MEFV基因突变引起的自身炎症性疾病,其特征是经常出现发烧发作和血清炎.
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