Gottlieb Chloe, Li Zhuqing, Uzel Gulbu, Nussenblatt Robert B, Sen H Nida
Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1863, USA.
Ophthalmic Genet. 2010 Mar;31(1):24-9. doi: 10.3109/13816810903426249.
Del22q11.2, also known as DiGeorge syndrome, has a spectrum of ocular, facial and systemic features. Despite features of T cell dysfunction, infection and autoimmunity (including juvenile idiopathic arthritis), uveitis has not been described in patients with DiGeorge syndrome.
We describe a case of a 25-year-old male with bilateral granulomatous panuveitis who after initial investigation and treatment for an infectious cause was determined to have autoimmune-related uveitis with evidence on clinical, laboratory and imaging assessments suggestive of ocular sarcoidosis.
The patient was found to have a normal T cell count and T cell proliferative response that was compared to a control patient, and phenotypes determined by flow cytometry were normal. However, the CD4/CD8 ratio in this patient was slightly lower than normal and the number of CD28 negative T cells, in both CD4 and CD8 populations, were significantly higher than a control.
The significance of these T cell abnormalities is unknown in the context of this patient's uveitis but is suggestive of a role in autoimmunity, which is a known phenomenon in del22q11.2 syndrome, although autoimmune-related uveitis is not a previously described feature.
22q11.2缺失综合征，也称为迪格奥尔格综合征，具有一系列眼部、面部和全身特征。尽管存在T细胞功能障碍、感染和自身免疫（包括幼年特发性关节炎）的特征，但迪格奥尔格综合征患者中尚未有葡萄膜炎的相关描述。
我们描述了一例25岁男性双侧肉芽肿性全葡萄膜炎患者，在最初针对感染病因进行检查和治疗后，经临床、实验室和影像学评估确定为自身免疫性相关葡萄膜炎，有提示眼部结节病的证据。
与对照患者相比，该患者T细胞计数和T细胞增殖反应正常，通过流式细胞术测定的表型也正常。然而，该患者的CD4/CD8比值略低于正常，且CD4和CD8群体中CD28阴性T细胞数量均显著高于对照。
在该患者葡萄膜炎的背景下，这些T细胞异常的意义尚不清楚，但提示其在自身免疫中起作用，这在22q11.2综合征中是一种已知现象，尽管自身免疫性相关葡萄膜炎并非先前描述的特征。
