Proteasome-associated autoinflammatory syndrome 1 is an autosomal dominant disorder caused by mutations of the POMP gene.
1. |
Brehm A et. al. (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. |
2. |
Mégarbané A et. al. (2002) An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy. |
3. |
Poli MC et. al. (2018) Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. |