Here we describe the case of a 38-year-old man with a history of ischemic transient attacks and strokes from the age of 9 years, livedo reticularis, asymmetrical sensorimotor neuropathy, optic neuritis, testicular ischemia, digital ulcers, ulcerative colitis, and diastolic hypertension. Disease course was characterized by severe disease bouts treated with high-dose intravenous (IV) glucocorticoid (GC) pulse therapy, short periods of paucisymptomatic disease, and inability to taper GCs despite the use of traditional oral and IV immunosuppressants, interferon, and plasmapheresis.

中文翻译：

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揭示腺苷脱氨酶 2 缺乏症：一名患有复发性中风、血管炎性溃疡和肠穿孔的成年患者。

在这里，我们描述了一名 38 岁男性的病例，他有 9 岁以来的缺血性短暂性发作和中风病史、网状青斑、不对称感觉运动神经病变、视神经炎、睾丸缺血、指溃疡、溃疡性结肠炎和舒张压高血压。病程的特点是使用高剂量静脉内 (IV) 糖皮质激素 (GC) 脉冲疗法治疗严重的疾病发作、症状较短的疾病，以及尽管使用了传统的口服和静脉注射免疫抑制剂、干扰素和血浆置换，但仍无法逐渐减少 GC。