Immunogenetic Mechanisms in Behcet's Disease

Uveitis is responsible for approximately 30,000 cases of new legal blindness in the United
States and 2.8-10% of all cases of blindness. Beh(SqrRoot)(Beta)et s disease (BD) is a
chronic relapsing multisystem inflammatory disorder of unknown etiology that is characterized
by intraocular inflammation, oral and mucosal ulcerations, cutaneous lesions and inflammation
that may affect other body organs such as the joints, intestinal tract, epididymis, blood
vessels and the central nervous system (2). The need for a safer and more effective therapy
for patients with ocular manifestations of BD refractory to or intolerant of systemic
immunosuppressive therapy warrants further investigation. Reports define a specific role for
interleukin (IL)-17A in the pathogenesis of Beh(SqrRoot)(Beta)et s disease.

This protocol will evaluate immune mediators including cytokine profiles (soluble and
intracellular), lymphocyte phenotyping and regulatory T-cells in participants with BD.
Epigenetic modifications will also be studied.

Additionally, it has been suggested that American/Western BD patients may have different
disease characteristics than their Mediterranean counterparts. The disease characteristics of
American/Western and Mediterranean BD patients will be compared and evaluated. Blood samples
from BD participants that have participated in other NIH protocols where participants
consented for other or future use of samples has been obtained will be collected
(particularly from current participants of NIH protocol 03-AR-0173 in which NEI is a
collaborator). In summary, the results will be analyzed with respect to disease in different
ethnic groups, and clinical features of the disease (e.g., ocular vs. non-ocular involvement,
active vs. quiescent disease).

Anonymous blood samples (matched for race, age and sex) will be obtained from the NIH
clinical center (CC) blood bank and will be compared to the diseased samples.

- INCLUSION CRITERIA:

One of the following must be true:

- Participants must have a diagnosis of BD according to the International Study Group
for BD criteria or modified Japanese criteria, be enrolled in another NIH study and be
willing to donate their blood for the purposes of this research study.

- Participants must be willing to have their blood stored for future/other research.

EXCLUSION CRITERIA:

Eligible participants who do not wish to donate their blood sample or undergo a blood draw
for the purposes of this research study.