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.
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Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease
Timeframe: Study End (Up to Year 5)
Number of newly discovered structural genomic variants that cause human inflammatory disease
Timeframe: Study End (Up to Year 5)
Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease
Timeframe: Study End (Up to Year 5)
Number of newly discovered somatic mutations that give rise to human inflammatory disease
Timeframe: Study End (Up to Year 5)