Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature

Table 2 Summary of the patients with MWS reported in China

Patient	Gender	Age at onset (years)	Family history	Cold trigger	Clinical characteristics
Patient	Gender	Age at onset (years)	Family history	Cold trigger	Fever	Skin rash	Oral ulcer	Conjunctivitis	Myalgia	Arthralgia/arthritis	Abdominal pain	Headache	Hearing loss	Chronic meningitis	Renal amyloidosis
1^[[[23]]]	Male	7	×	×	√	√	×	×	×	√	×	×	×	×	×
2^[[[23]]]	Male	46	×	×	√	√	√	×	√	√	√	×	×	×	×
3^[[[23]]]	Male	2	×	×	√	√	√	√	√	×	×	√	×	×	×
4^[[[23]]]	Male	2	×	×	√	√	√	√	×	√	×	√	√	√	×
5^[[[24]]]	Male	7	×	×	√	√	×	×	×	√	×	×	×	×	×
6^a	Male	3	×	×	√	√	×	√	×	×	×	×	×	×	×

Patient	Laboratory indicators			NLRP3 variation		Treatment
Patient	Increased CRP	Increased ESR	Increased SAA	Nucleotide exchange	Amino acid exchange	Treatment
1^[[[23]]]	√	√	-	c.86A > T	p.D26V	prednisone + MTX
2^[[[23]]]	√	√	-	c.2107C > A	p.Q703K	prednisone + TwHF
3^[[[23]]]	√	√	-	c.208G > A	p.V70M	prednisone
4^[[[23]]]	√	√	-	c.1043C > T	p.T348M	prednisone + CsA
5^[[[24]]]	√	√	-	c.92A > T	p.D31V	prednisone + MTX → colchicine → etanercept → ×
6^a	√	√	√	c.784-786delinsTGG	p.R262W	thalidomide

ISSN: 1546-0096