Examining the Immunological Process of Autoimmune Patients



Status:Withdrawn
Conditions:Infectious Disease, Rheumatology
Therapuetic Areas:Immunology / Infectious Diseases, Rheumatology
Healthy:No
Age Range:9 - 21
Updated:8/9/2017
Start Date:July 2014
End Date:August 2016

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Sjögren's syndrome (SjS) is an autoimmune disease characterized primarily by exocrine gland
dysfunction, specifically of the salivary and lacrimal glands, resulting in dry mouth and dry
eyes symptoms. It can be systemic by affecting other organs including the gastrointestinal
tract, skin, lungs, vasculature, kidneys, bladder and vagina. Involvement of the musculature
can lead to fibromyalgia-like symptoms and chronic fatigue, while approximately 20% of
patients develop various neuropathies, including sensory, peripheral, cranial and myelopathic
neuropathies exhibited by cognitive impairments such as dementia, lack of concentration,
memory loss and various psychiatric disorders. Like most autoimmune connective tissue
diseases, SjS shows a sexual dimorphism with women affected 10-times more frequently than
men, suggesting a role for sex hormones in disease susceptibility or progression. One common
feature of SjS is it infiltration of mononuclear cells into the salivary and lacrimal glands,
aggregating into clusters referred to as lymphocytic foci (LF). Critical to the studies
proposed is the fact that a predominant cell population of LF is the pathogenic TH17 cell
that produces IL-17 cytokine and autoreactive B cells reactive to M3R, Ro, and La
autoantigens. The goal of this study is characterize the change in receptor gene repertoires
of autoreactive B and T cells at different time points during the disease process and examine
the correlation with various disease parameters.

Blood from patient and healthy controls will be collected once every 3-6 months. White blood
cells from blood samples will be separated. Tests will be done to see which substances these
cells make. Using sequencing techniques, the investigators will determine the genetic code of
the receptors expressed on these cells. The investigators plan to test how these cells change
over the period of at least 3 years at different visits. In addition, the investigators will
check how these changes relate to patients' general medical history relevant to autoimmune
disease, lab results and physical examinations and exams pertinent to the diagnosis of
autoimmune disease, and psychosocial data.

Inclusion Criteria for Sjogren's syndrome patients:

- Primary Sjogren's syndrome patients: primary Sjogren's syndrome patients who meet the
revised criteria for SjS diagnosis by the American-European Consensus Group.

- Secondary Sjogren's syndrome patients: secondary Sjogren's syndrome patients who meet
the criteria for primary Sjogren's syndrome in association with other autoimmune
diseases such as systemic lupus erythematosus , dermatomyositis, scleroderma,
idiopathic arthritis, mixed connective tissue disease, etc.

Inclusion Criteria for healthy controls:

-Subjects who does not have history of autoimmune diseases.

Exclusion Criteria:

- Pregnant women.

- Patients with history of lymphoma or malignancy.
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