Table 2.

Risk allele and gene dysregulation involving inflammasomes in pediatric rheumatic diseases

Disease	Subgroup	Genomic variant	Gene expression	Potential functional impact on inflammasome	Ref
JIA	Systemic JIA (sJIA, Leprosy, Crohn's disease)	LACC1 p.C284R, p. I254V		Increased ROS production results in NLRP3 inflammasome activation	[11]
	Systemic JIA		Upregulation of AIM2, NLRC4, IL18RAP	Activation of AIM2 and NLRC4 inflammasomes	[38]
	Oligo-/poly-articular JIA	NLRP3 rs4353135	Upregulation of NLRP3	Activation of NLRP3 inflammasome	[46]
JSpA	JSpA	TLR4 rs4986791		Increased priming for NLRP3 inflammasome activation	[49]
	JSpA		Upregulation of TLR4 and NLRP3	Activation of NLRP3 inflammasome	[50]
	Psoriatic JIA	MEFV rs224204		Change in MEFV transcript variant	[48]
	Psoriatic JIA	NLRP3 rs3806265		Activation of NLRP3 inflammasome	[48]
JSLE	JSLE	IL1B rs1143629		Increased IL-1ß production	[70]
	JSLE		Reduced AIM2 DNA methylation	upregulation of AIM2 and AIM2 inflammasome activation	[72]
	JSLE male	TNFAIP3 rs2230926		increased NFkB signaling and priming for NLRP3 inflammasome activation	[71]
	JSLE male		Upregulation of AIM2	Activation of AIM2 inflammasome	[22]
	JSLE female		Upregulation of NLRP3	Activation of NLRP3 inflammasome	[22]
JIMM	JDM	TNF rs1800629	Upregulation of TNF-alpha	Increased priming for NLRP3 inflammasome activation	[88]
	JDM	IL1B rs1143634		Increased IL-1ß production	[88]
KD		ITPKC rs28493229	Downregulation of ITPKC	Increased intracellular calcium results in NLRP3 inflammasome activation	[98, 99]
HSP		MEFV variants in exon 10		Activation of pyrin inflammasome	[94]