Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature

Table 2 Genetic results of 14 NLR-related autoinflammatory diseases patients

	Diagnosis	Gene	Variant†	Pathogenicity	Inheritance	Family history
1	FACS	NLRP3	c.932T > C, p.Phe311Ser	Pathogenic	De novo	No
2	FACS	NLRP3	c.796C > T, p.Leu266Phe	Pathogenic	De novo	No
3	FACS	NLRP3	c.1049C > T, p.Thr350Met	Pathogenic	Maternal	Yes
4	MWS	NLRP3	c.1311G > T, p.Lys437Asn	Pathogenic	De novo	No
5	MWS	NLRP3	c.1049C > T, p.Thr350Met	Pathogenic	De novo	No
6	MWS	NLRP3	c.1711G > A, p.Gly571Arg	Pathogenic	De novo	No
7	NOMID	NLRP3	c.1715A > G, p.Tyr572Cys	Pathogenic	De novo	No
8	NOMID	NLRP3	c.1711G > C, p.Gly571Arg	Pathogenic	De novo	No
9	NOMID	NLRP3	c.1991T > C, p.Met664Thr	Pathogenic	De novo	No
10	NOMID	NLRP3	c.1991T > C, p.Met664Thr	Pathogenic	De novo	No
11	NOMID	NLRP3	c.983G > A, p.Gly328Glu	Pathogenic	Paternal	Yes
12	NOMID	NLRP3	c.913G > A, p.Asp305Asn	Pathogenic	De novo	No
13	NOMID	NLRP3	c.918G > T, p.Glu306Asp	Likely pathogenic	De novo	No
14	NOMID	NLRP3	c.1082T > G, p.Leu361Trp*	Likely pathogenic	De novo	No

ISSN: 1750-1172