Table 1.
Characteristics of Inflammasomopathies discovered in our center (Total N = 33).
| Characteristics (N, %) | NLRP3-AID (n = 12) | NLRP12-AID (n = 4) | FCAS3 (n = 2) | FCAS4 (n = 1) | FMF (n = 10) | MKD (n = 4) |
|---|---|---|---|---|---|---|
| Male:Female | 8:4 | 1:3 | 0:2 | 1:0 | 6:4 | 3:1 |
| Age at onset (median, range) |
0.2 m; (0.1 m−4.8 y) |
4; (0–10) | 12; (10–14) | 1 | 7.5; (4–12) | 0.6; (0.25–1) |
| Age at diagnosis (median, range) |
4 (0.1 m−20 y) |
11.5; (9–17) |
15; (14–16) | 2 | 10; (5–14) | 2; (1–5) |
| Duration from onset to diagnosis (median, range) | 4; (0–18) | 7.5; (2–14) | 3; (0–6) | 1 | 1; (0–10) | 1.5 (1–5) |
| Family history | 0 (0) | 0 (0) | 2 (100) | 0 (0) | 0 (0) | 1 (25) |
| Fever | 11 (92) | 4 (100) | 2 (100) | 1 (100) | 10 (100) | 4 (100) |
| Abdominal pain | 0 (0) | 1 (25) | 0 (0) | 0 (0) | 5 (50) | 1 (25) |
| Chest pain | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Arthralgia/Arthritis | 4 (33) | 2 (50) | 0 (0) | 0 (0) | 5 (50) | 2 (50) |
| Myalgia | 0 (0) | 1 (25) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Cutaneous rash | 12 (100) | 3 (75) | 2 (100) | 1 (100) | 5 (50) | 3 (75) |
| Cold-induced urticarial | 2 (17) | 0 (0) | 2 (100) | 0 (0) | 2 (20) | 0 (0) |
| Facial edema | 0 (0) | 0 (0) | 1 (50) | 1 (100) | 0 (0) | 0 (0) |
| Neurological abnormalities | 7 (58) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Oral ulcer | 0 (0) | 0 (0) | 1 (50) | 1 (100) | 1 (10) | 1 (25) |
| Ocular manifestations | 5 (42) | 1 (25) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Lymphadenopathy | 6 (50) | 1 (25) | 2 (100) | 0 (0) | 1 (10) | 2 (50) |
| Hepatosplenomegaly | 2 (17) | 1 (25) | 1 (50) | 0 (0) | 1 (10) | 1 (25) |
| Otological abnormalities | 5 (42) | 2 (50) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Vasculitis | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (10) | 0 (0) |
| Amyloidosis | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Growth retardation | 9 (75) | 0 (0) | 0 (0) | 0 (0) | 1 (10) | 2 (50) |
| ANA positivity | 2 (17) | 1 (25) | 1 (50) | 0 (0) | 1 (10) | 0 (0) |
| Elevated ESR/CRP | 12 (100) | 4 (100) | 2 (100) | 1 (100) | 10 (100) | 4 (100) |
| Genes | NLRP3 | NLRP12 | PLCG2 | NLRC4 | MEFV | MVK |
| Inheritance | AD | AD | AD | AD | AR | AR |
| Gene mutations/variants | p.L266F p.D305N p.E306D p.F311S p.T350M p.K437N p.G571R p.Y572C p.M664T p.Q705K |
p.L558R p.W581X p.G730R c.2072+2 dupT |
p.C1082R p.I1175K |
p.G172S | p.L110P p.P115R p.E148Q p.E230K p.G304R p.P369S p.P633L p.F636Y |
p.V8M/p.G336S p.S118P/p.G211X p.G219R/p.P263L |
AD, autosomal dominant; AR, autosomal recessive; FCAS, familial cold autoinflammatory syndrome; FMF, familial Mediterranean fever; MKD, mevalonate kinase deficiency; m, month; y, year.