Proteasome-associated autoinflammatory syndrome 3

Proteasome-associated autoinflammatory syndrome 1 is an autosomal recessive or digenic disorder caused by mutations of the PSMB4 and PSMB9 genes.

Systematic

Proteasome-associated autoinflammatory syndrome
	PSMA3
	Proteasome-associated autoinflammatory syndrome 1
	Proteasome-associated autoinflammatory syndrome 2
	Proteasome-associated autoinflammatory syndrome 3
		PSMB4
		PSMB9
	Proteasome-associated autoinflammatory syndrome 4

References:

1.	Liu Y et. al. (2012) Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

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

Update: June 23, 2025

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