DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation

Very few families with mutations in DDX58 (RIG-I), an innate immune sensor, have been described with a multisystem disorder featuring blood vessel calcium deposition, a skin rash, and childhood glaucoma. Here, we have identified two unrelated families that share a rare variant in DDX58, and showed that it causes disease by a gain-of-function mechanism and tissue specific effects.  We demonstrate that some family members carrying this mutation only have the most common feature of childhood glaucoma, while others have more extensive syndromic features. We further provide the first complete molecular and histologic description of the skin findings in this disorder. (By Dr. Lev Prasov, https://jmg.bmj.com/content/early/2021/01/24/jmedgenet-2020-107447 )

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