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

Table 3 Clinical manifestations of 14 NLR-related autoinflammatory diseases patients

Patient No	Fever	Rash	Ocular symptoms	Hearing loss	Neurological symptoms	Severe neurological symptoms	Musculoskeletal manifestations	Severe Musculoskeletal manifestations	Growth retardation	Leukocytosis	Anemia	Thrombocytosis	Increased CRP/ESR	Increased Ferritin	ANA (+)	Proteinuria
1	√	√			√					√		√	√	NA
2	√	√			√				√	√	√	√	√	NA
3	√	√								√			√	NEG
4	√	√			√	√	√	√	√	√		√	√	√	√	√
5	√	√	√	√	√		√			√		√	√	NA
6	√	√		√						√		√	√	NA
7		√		√	√		√	√		√	√	√	√	NEG		√
8	√	√			√	√				√	√	√	√	NA
9	√	√	√	√	√	√	√	√	√	√	√	√	√	NEG
10	√	√			√	√			√	√	√	√	√	NEG
11	√	√			√		√			√	√	√	√	NEG
12	√	√	√	√	√		√		√	√	√	√	√	NEG
13	√	√		√	√	√	√	√		√	√	√	√	NEG
14	√	√	√		√		√			√	√	√	√	NEG

ISSN: 1750-1172

Patient No	Fever	Rash	Ocular symptoms	Hearing loss	Neurological symptoms	Severe neurological symptoms	Musculoskeletal manifestations	Severe Musculoskeletal manifestations	Growth retardation	Leukocytosis	Anemia	Thrombocytosis	Increased CRP/ESR	Increased Ferritin	ANA (+)	Proteinuria
1	√	√			√					√		√	√	NA
2	√	√			√				√	√	√	√	√	NA
3	√	√								√			√	NEG
4	√	√			√	√	√	√	√	√		√	√	√	√	√
5	√	√	√	√	√		√			√		√	√	NA
6	√	√		√						√		√	√	NA
7		√		√	√		√	√		√	√	√	√	NEG		√
8	√	√			√	√				√	√	√	√	NA
9	√	√	√	√	√	√	√	√	√	√	√	√	√	NEG
10	√	√			√	√			√	√	√	√	√	NEG
11	√	√			√		√			√	√	√	√	NEG
12	√	√	√	√	√		√		√	√	√	√	√	NEG
13	√	√		√	√	√	√	√		√	√	√	√	NEG
14	√	√	√		√		√			√	√	√	√	NEG

Patient No	Fever	Rash	Ocular symptoms	Hearing loss	Neurological symptoms	Severe neurological symptoms	Musculoskeletal manifestations	Severe Musculoskeletal manifestations	Growth retardation	Leukocytosis	Anemia	Thrombocytosis	Increased CRP/ESR	Increased Ferritin	ANA (+)	Proteinuria
1	√	√			√					√		√	√	NA
2	√	√			√				√	√	√	√	√	NA
3	√	√								√			√	NEG
4	√	√			√	√	√	√	√	√		√	√	√	√	√
5	√	√	√	√	√		√			√		√	√	NA
6	√	√		√						√		√	√	NA
7		√		√	√		√	√		√	√	√	√	NEG		√
8	√	√			√	√				√	√	√	√	NA
9	√	√	√	√	√	√	√	√	√	√	√	√	√	NEG
10	√	√			√	√			√	√	√	√	√	NEG
11	√	√			√		√			√	√	√	√	NEG
12	√	√	√	√	√		√		√	√	√	√	√	NEG
13	√	√		√	√	√	√	√		√	√	√	√	NEG
14	√	√	√		√		√			√	√	√	√	NEG

Patient No	Fever	Rash	Ocular symptoms	Hearing loss	Neurological symptoms	Severe neurological symptoms	Musculoskeletal manifestations	Severe Musculoskeletal manifestations	Growth retardation	Leukocytosis	Anemia	Thrombocytosis	Increased CRP/ESR	Increased Ferritin	ANA (+)	Proteinuria
1	√	√			√					√		√	√	NA
2	√	√			√				√	√	√	√	√	NA
3	√	√								√			√	NEG
4	√	√			√	√	√	√	√	√		√	√	√	√	√
5	√	√	√	√	√		√			√		√	√	NA
6	√	√		√						√		√	√	NA
7		√		√	√		√	√		√	√	√	√	NEG		√
8	√	√			√	√				√	√	√	√	NA
9	√	√	√	√	√	√	√	√	√	√	√	√	√	NEG
10	√	√			√	√			√	√	√	√	√	NEG
11	√	√			√		√			√	√	√	√	NEG
12	√	√	√	√	√		√		√	√	√	√	√	NEG
13	√	√		√	√	√	√	√		√	√	√	√	NEG
14	√	√	√		√		√			√	√	√	√	NEG