This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.
This is a single-site protocol designed to test the hypothesis that genetic factors contribute to susceptibility to human disorders of inflammation, and the hypothesis that identifying such genetic susceptibility factors will contribute to our understanding of the immunologic mechanisms of these diseases. There are 3 main objectives: Primary Objective: To discover the genetic basis of human disorders of inflammation or autoinflammatory diseases. Secondary Objective: To enumerate immunologic features and genotype-phenotype associations in specific inflammatory diseases, such as VEXAS syndrome. Tertiary/Exploratory Objective: To describe the clinical features of poorly characterized or newly defined disorders of inflammation, such as VEXAS syndrome, through the retrospective chart review of standard medical practice follow up
Study Type
OBSERVATIONAL
Enrollment
1,500
NYC H+H/Bellevue
New York, New York, United States
RECRUITINGNYU Langone Health
New York, New York, United States
RECRUITINGNumber of newly discovered rare, high penetrance germline variants that cause human inflammatory disease
Time frame: Study End (Up to Year 5)
Number of newly discovered structural genomic variants that cause human inflammatory disease
Time frame: Study End (Up to Year 5)
Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease
Time frame: Study End (Up to Year 5)
Number of newly discovered somatic mutations that give rise to human inflammatory disease
Time frame: Study End (Up to Year 5)
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