Molecular biology of autoinflammatory diseases

Masumoto, Junya; Zhou, Wei; Morikawa, Shinnosuke; Hosokawa, Sho; Taguchi, Haruka; Yamamoto, Toshihiro; Kurata, Mie; Kaneko, Naoe

doi:10.1186/s41232-021-00181-8

Inflammation and Regeneration

Table 1 The corresponding diseases caused by the similar signaling of autoinflammatory diseases

From: Molecular biology of autoinflammatory diseases

Type of autoinflammatory diseases	Responding proteins	Functions	Corresponding diseases with the similar signaling
Inflammasomopathies
CAPS	Cryopyrin/NLRP3	PRR for ROS, K⁺ efflux, cathepsin B detection	Metabolic syndrome:
			Gout [42]
			Atherosclerosis [43]
			Type 2 diabetes [44]
			Neurodegenerative disease:
			Alzheimer’s disease [45, 46]
			Parkinson’s disease [47]
			Amyotrophic lateral sclerosis [48]
			Multiple sclerosis [49]
			Infections and aberrant inflammatory responses:
			Septic shock syndrome [50, 51]
			Ischemic diseases:
			Myocardial infarction [52]
			Stroke [53]
NAIAD	NLRP1	PRR against Anthrax toxin detection	Infections and aberrant inflammatory responses:
			Anthrax lethal toxin [54]
			Neurodegenerative disease:
			Alzheimer’s disease [46]
			Ischemic diseases:
			Stroke [53]
NLRP12-AD	NLRP12	PRR for Yersinia pestis detection	Infections and aberrant inflammatory responses:
			Yersinia pestis [55]
			Plasmodium chabaudi [56]
		NF-κB inhibition	Regulation of inflammation:
			Salmonella typhimurium [57]
			Brucella abortus [58]
TRAPS	TNFRSF1A	TNF receptor	Infections and aberrant inflammatory responses:
TRAPS	TNFRSF1A	TNF receptor	Tumor necrosis factor [59]
APLAID	PLCγ2	Cleavage PIP to DAG	Immunodeficiency:
			Common variable immunodeficiency [60]
			PLCγ2-associated antibody deficiency and immune dysregulation syndrome (PLAID) [60]
			Familial cold autoinflammatory syndrome 3 [60]
			Neurodegenerative disease:
			Alzheimer’s disease [61, 62]
			Lewy body dementia [62]
			Frontotemporal dementia [62]
FMF	Pyrin	Virulence sensor	Infections and aberrant inflammatory responses:
FMF	Pyrin	Virulence sensor	Yersinia pestis infection [63]
PFIT	WDR1	Actin assembly, leukocyte migration	Infections and aberrant inflammatory responses:
PFIT	WDR1	Actin assembly, leukocyte migration	Listeria monocytogenes dissemination [64]
PAAND	Pyrin	Virulence sensor	Infections and aberrant inflammatory responses:
PAAND	Pyrin	Virulence sensor	Yersinia pestis infection [63]
PAPA syndrome	PSTPIP1/CD2BP1	Pyrin regulation	Immunodeficiency:
PAPA syndrome	PSTPIP1/CD2BP1	Pyrin regulation	Common variable immunodeficiency [65]
MKD	MVK	Lipid metabolism	Metabolic syndrome:
MKD	MVK	Lipid metabolism	Atherosclerosis [66]
NLRC4 inflammasomopathies	NLRC4	PRR for flagellin detection	Infections and aberrant inflammatory responses:
			Pseudomonas aeruginosa infection [67]
			Macrophage activation syndrome (MAS) [68]
Relopathies
BS/EOS	NOD2	PRR for MDP	Infections and aberrant inflammatory responses:
BS/EOS	NOD2	PRR for MDP	Mycobacterium tuberculosis infection [69]
HA20	A20/TNFAIP3A	Deubiquitinating for NF-κB regulation	Infections and aberrant inflammatory responses:
			Systemic lupus erythematosus (SLE) [70]
			Rheumatoid arthritis [71]
IAALUCD	LUBAC	Ubiquitinating for NF-κB regulation	Infections and aberrant inflammatory responses:
	HOIL-1/ RBCK1		Salmonella enterica infection [72]
	HOIP/RNF31		Legionella pneumophila infection [72]
	SHARPIN		Shigella flexneri infection [72]
ORAS	OTULIN	Deubiquitinating for NF-κB regulation	Infections and aberrant inflammatory responses:
ORAS	OTULIN	Deubiquitinating for NF-κB regulation	Salmonella Typhimurium infection [73]
IL-1 receptor-related autoinflammatory diseases:
DIRA	IL1RN	IL-1 receptor inhibitor	Infections and aberrant inflammatory responses:
DIRA	IL1RN	IL-1 receptor inhibitor	Inflammasomopathies [74]
Interferonopathies
AGS	RNASEH2	RNase activity against viral RNA	Infections and aberrant inflammatory responses:
			SLE and other autoimmune diseases [75, 76]
			Cervical cancer via human papilloma virus [77]
	SAMHD1	dNTPase activity against viral RNA/DNA	Epstein-Barr virus infection [78]
	SAMHD1	dNTPase activity against viral RNA/DNA	Human immunodeficiency virus infection [79]
	ADAR1	Viral RNA processing	Hepatitis B virus infection [80]
	ADAR1	Viral RNA processing	Marburg and Ebola virus [81]
	MDA5/IFIH1	PRR for viral RNA detection	Paramyxovirus infection [82]
	MDA5/IFIH1	PRR for viral RNA detection	Picornavirus infection [83]
SAVI	STING/TMEM173	PRR for viral DNA/RNA detection	Infections and aberrant inflammatory responses:
			SLE and other autoimmune diseases [76]
			ANCA-associated vasculitis [84]
			Herpes simplex virus infection [85]
COPA syndrome	αCOP	Transport vesicles between Golgi to ER	Infections and aberrant inflammatory responses:
			Interstitial lung disease [86]
			Capillaritis [87]
PRAAS/NNS/CANDLE	PSMB3,4,8,9	Proteasome for antigen processing	Infections and aberrant inflammatory responses:
			SLE and other autoimmune disease [87, 88]
			Cytomegalovirus infection [89]
			Hepatitis B virus infection [90]
			Influenza virus infection [91]
	POMP	Proteasome chaperone	Infections and aberrant inflammatory responses:
			Psoriasis [92]
			Human papilloma virus infection [93]
SMS	MDA5/IFIH1	PRR for viral RNA detection	Infections and aberrant inflammatory responses:
			SLE and other autoimmune diseases [75, 76, 94]
			Paramyxovirus infection [82]
			Picornavirus infection [83]
	RIG-I	PRR for viral RNA detection	Infections and aberrant inflammatory responses:
			SLE and other autoimmune diseases [95]
			Paramyxovirus infection [83]

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ISSN: 1880-8190

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