Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2

被引：7

作者：

Gottlieb, Chloe ^{[1
]}

Li, Zhuqing ^{[1
]}

Uzel, Gulbu ^{[2
]}

Nussenblatt, Robert B. ^{[1
]}

Sen, H. Nida ^{[1
]}

机构：

[1] NEI, NIH, Immunol Lab, Bethesda, MD 20892 USA

[2] NIAID, NIH, Bethesda, MD 20892 USA

来源：

OPHTHALMIC GENETICS | 2010年 / 31卷 / 01期

关键词：

DiGeorge syndrome; Uveitis; Deletion; 22q11.2; Velocardiofacial syndrome; Sarcoidosis; JUVENILE RHEUMATOID-ARTHRITIS; CELLS;

D O I：

10.3109/13816810903426249

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Methods: 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. Results: 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. Conclusions: 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.

引用

页码：24 / 29

页数：6

共 22 条

[1] Chronic arthritis without uveitis in velocardiofacial syndrome [J].