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Proteasome-associated autoinflammatory syndrome 2

Proteasome-associated autoinflammatory syndrome 1 is an autosomal dominant disorder caused by mutations of the POMP gene.

Systematic

Proteasome-associated autoinflammatory syndrome
PSMA3
Proteasome-associated autoinflammatory syndrome 1
Proteasome-associated autoinflammatory syndrome 2
POMP
Proteasome-associated autoinflammatory syndrome 3
Proteasome-associated autoinflammatory syndrome 4

References:

1.

Brehm A et. al. (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

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2.

Mégarbané A et. al. (2002) An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

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3.

Poli MC et. al. (2018) Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

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Update: Aug. 14, 2020
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