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


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.
Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1863, USA. gottliebc@nei.nih.gov
Chloe
C
Gottlieb
Zhuqing
Z
Li
Gulbu
G
Uzel
Robert B
RB
Nussenblatt
H Nida
HN
Sen
D000328:Adult; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D016516:CD4-CD8 Ratio; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D005434:Flow Cytometry; D005451:Fluorescein Angiography; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008213:Lymphocyte Activation / Q000502:physiology; D018655:Lymphocyte Count; D008297:Male; D015864:Panuveitis / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology; D041623:Tomography, Optical Coherence