Article
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
American journal of human genetics - 7 Jun 2018
Poli M Cecilia, Ebstein Frédéric, Nicholas Sarah K, de Guzman Marietta M, Forbes Lisa R, Chinn Ivan K, Mace Emily M, Vogel Tiphanie P, Carisey Alexandre F, Benavides Felipe, Coban-Akdemir Zeynep H, Gibbs Richard A, Jhangiani Shalini N, Muzny Donna M, Carvalho Claudia M B, Schady Deborah A, Jain Mahim, Rosenfeld Jill A, Emrick Lisa, Lewis Richard A, Lee Brendan, Zieba Barbara A, Küry Sébastien, Krüger Elke, Lupski James R, Bostwick Bret L, Orange Jordan S
Abstract excerpt
The proteasome processes proteins to facilitate immune recognition and host defense. When inherently defective, it can lead to aberrant immunity resulting in a dysregulated response that can cause autoimmunity and/or autoinflammation. Biallelic or digenic loss-of-function variants in some of the proteasome subunits have been described as causing a primary immunodeficiency disease that manifests as a severe...
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