Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses

Table 1

Clinical and genetic information of nine NLRP3-AID patients.

Patient		F1-3	F2-3	F3-4	F4-4	F5-3	F6-3	F7-4	F8-3	F9-3
Gender		M	F	M	M	F	M	F	F	M
Age (month)	Onset	0	216	48	8	48	36	12	0	12
	First visit	104	255	89	125	63	90	129	14	12
	Diagnosis	162	257	90	125	63	115	130	14	22
Exon		3	3	3	3	3	3	3	3	3
Variant	Nucleotide change	c.1311G > T	c.913G > A	c.913G > A	c.1049C > T	c.1711G > C	c.1054G > A	c.1982T > G	c.785G > C	c.1064T > C
	Amino acid	p.K437N	p.D305N	p.D305N	p.T350M	p.G571R	p.A352T	p.M661R	p.R262P	p.L355P
	Zygosity	Het	Het	Het	Het	Het	Het	Het	Het	Het
	Type	Missense	Missense	Missense	Missense	Missense	Missense	Missense	Missense	Missense
Computational prediction		DDDDDL	DDDDDD	LDDDDD	DBDDDL	.DLDBL	D.DDDD	DDBDDL	.DD..L	…..D
Novel mutation		—	—	—	—	—	—	Novel	—	—
Diagnosis		CINCA	MWS	FCAS	FCAS	FCAS	FCAS	FCAS	CINCA	FCAS
Medical regimen
Medicine	NSAIDs	+	+	++	++	+	+	++	++	—
	Glucocorticoid	+	—	++	++	++	++	++	++	—
	Methotrexate	+	—	++	—	++	++	+	—	—
	Thalidomide	++	++	—	++	++	++	—	++	—
	Tocilizumab	—	++	—	—	—	—	—	+	—
	Colchicine	+	—	—	—	—	—	—	—	—
	Leflunomide	+	—	—	—	—	—	—	—	—
	Canakinumab	—	—	—	—	—	—	—	++	+
	Anakinra	—	—	—	—	—	—	—	—	+
The efficacy		PR	CR	PR	CR	PR	PR	PR	PR	CR

M, male; F, female; Het, heterozygous; D, damaging; B, benign; L, likely damaging; FCAS, familial cold autoinflammatory syndrome; MWS, Muckle–Wells syndrome; CINCA, chronic infantile neurologic cutaneous articular syndrome; NSAIDs, nonsteroidal anti-inflammatory drug; PR, partial remission; and CR, complete remission. Computational prediction: Letters represent the prediction of REVEL, SIFT, Polyphen-2, MutationTaster, GERP+, and final classification (American College of Medical Genetics and Genomics) in turn. The dot represented the lack of prediction results in this way. The medication regimen after the detection of the gene mutation was marked once more on the basis of the medication applied before the gene mutation seizure, and there were no new drugs after the seizure. + represents past treatment medication, and ++ represents current treatment medication.