Monday, December 30, 2019

Advanced Techniques Refine Diagnosis of Autoinflammatory Diseases, Identify Three New Conditions

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Monday, December 30, 2019

Advanced Techniques Refine Diagnosis of Autoinflammatory Diseases, Identify Three New Conditions

A photo collage of clinical symptoms of three new autoinflammatory diseases discovered by NIAID scientists and colleagues.

In people with autoinflammatory diseases, the innate immune system attacks the body, causing fevers, rashes and organ damage that can prove disabling and even fatal to children and adults. While a variety of genetic abnormalities can cause these rare inherited disorders, similar symptoms make precise diagnosis and treatment a challenge. In a report published online ahead of print today in the Journal of Clinical Investigation, NIH researchers used advanced techniques in genetics and immunology to refine the diagnosis in patients with autoinflammatory diseases. In doing so, they identified three new conditions with distinct clinical and immunological features; two of these diseases are caused by mutations in genes that were not previously associated with autoinflammatory diseases.

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