前垂体缺陷与常见可变免疫缺陷 (DAVID综合征):一个新的病例和文献报告
Thi Thom Mac1,2, Frederic Castinetti1,3, Céline Bar4
1Aix Marseille University, UMR1251, MMG - Marseille Medical Genetics - MarMaRa Institute, Faculty of Medicine, Marseille, France.
Journal of neuroendocrinology
|June 16, 2023
概括
缺陷前垂体与常见可变免疫缺陷 (DAVID) 综合征,由NFKB2基因突变引起,呈现出ACTH缺陷和低血. 早期诊断对于预防严重并发症至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
背景情况:
- 前垂体缺陷与常见可变免疫缺陷综合征 (DAVID) 是一种罕见的遗传疾病.
- 它的特点是上腺皮质激素 (ACTH) 缺乏和原发性低血糖球蛋白血症.
- 这种情况是由于核因子kappa-B亚单元2 (NFKB2) 基因的异构突变造成的.
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