延长的诊断旅程在延迟发作的腺脱氨酶缺乏症
Dan Tomomasa1, Masatoshi Takagi2, Ryohei Watanabe1
1Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.
Clinical immunology (Orlando, Fla.)
|November 26, 2024
概括
氨酸脱氨酶 (ADA) 缺乏症可以在成年期出现,而不仅仅是婴儿期. 通过ADA活性测试进行早期诊断对于联合免疫缺陷或复发性感染的患者至关重要.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 生物化学 生物化学
背景情况:
- 氨酸脱氨酶 (ADA) 缺乏通常表现为婴儿期严重的综合免疫缺陷 (SCID).
- 然而,可能会出现延迟或晚期发作的非典型表现,使诊断复杂化.
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