Proteasome-associated autoinflammatory syndrome

Proteasome-associated autoinflammatory syndromes are autosomal dominant or recessive or digenic disorders caused by dysfunctional proteasomes.

Pathogenesis

Proteasomes are subcellular structures involved in lysosomal-independent protein degradation by the ubiquitin pathway. In immune cells antigenes are processed by that waytoo, so it comes as no surprise that functional disturbances result in autoinflammatory processes.

Systematic

Autoinflammatory disease
	Autoinflammation with arthritis and dyskeratosis
	Autoinflammation, antibody deficiency, and immune dysregulation syndrome
	Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
	CARD14 associated psoriasis
	Chronic recurrent multifocal osteomyelitis
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	F12
	Familial cold autoinflammatory syndromes
	Hereditary pediatric Behçet-like disease
	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
	Inflammatory bowel disease
	Interleukin 10 deficiency
	Interleukin 10 receptor deficiency
	Interleukin-1 receptor antagonist deficiency
	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
	Proteasome-associated autoinflammatory syndrome
		PSMA3
		Proteasome-associated autoinflammatory syndrome 1
			PSMB8
		Proteasome-associated autoinflammatory syndrome 2
			POMP
		Proteasome-associated autoinflammatory syndrome 3
			PSMB4
			PSMB9
		Proteasome-associated autoinflammatory syndrome 4
			PSMG2
	Pseudo-TORCH-Syndrom
	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
	SH3BP2 deficienc with multilocular cysticy disease of the mandibles
	STING-associated vasculopathy with onset in infancy
	Singleton-Merten syndrome
	Susceptibility to malignant hyperthermia 5
	Susceptibility to rheumatoid arthritis
	Systemic autoinflammatory disease
	Systemic-onset juvenile idiopathic arthritis
	TNF receptor-associated periodic syndrome

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.

3.	Tanaka M et. al. (1993) Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

4.	Torrelo A et. al. (2010) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

5.	Garg A et. al. (2010) An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

6.	Agarwal AK et. al. (2010) PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

7.	Arima K et. al. (2011) Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

8.	Kitamura A et. al. (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

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

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

11.	Oyanagi K et. al. (1987) An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

12.	Kitano Y et. al. (1985) A syndrome with nodular erythema, elongated and thickened fingers, and emaciation.

13.	Yamada S et. al. (1984) [Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity].

Update: Aug. 14, 2020

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