Article
The common HAQ STING allele prevents clinical penetrance of COPA syndrome.
The Journal of experimental medicine - 7 Apr 2025
Simchoni Noa, Koide Shogo, Likhite Maryel, Kuchitsu Yoshihiko, Kadirvel Senkottuvelan, Law Christopher S, Elicker Brett M, Kurra Santosh, Wong Margaret Mei-Kay, Yuan Bo, Grossi Alice, Laxer Ronald M, Volpi Stefano, Dissanayake Dilan, Taguchi Tomohiko, Beck David B, Vogel Tiphanie P, Shum Anthony K
Abstract excerpt
COPA syndrome, an autosomal-dominant inborn error of immunity, is nonpenetrant in ∼20% of individuals, with no known mediators of protection. Recent studies implicate STING in the pathogenesis of COPA syndrome. We show that the common HAQ STING allele mediates complete clinical protection. We sequenced 35 individuals with COPA mutations, 26 affected patients and 9 unaffected carriers, finding HAQ STING...
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