Monogenic Interferonopathies

Type I interferonopathies are monogenic autoinflammatory diseases induced by constitutive activation of type 1 interferons.

They are caused by inappropriate regulation of nucleic acids, driven by nucleic acid sensors, aberrant response to IFNαβ signaling, unknown induction of IFNαβ, etc. They comprise an heterogeneous group of 25 rare diseases.

Aicardi-Goutières syndrome (AGS) and STING-associated vasculopathy with onset in infancy are among the best known monogenic interferonopathies associated with severe inflammatory disease, abnormal growth and development, disability, and mortalityn

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Joel Crouzet

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