Table 1.
Clinical characteristics in the eight patients with late onset of cryopyrin-associated periodic syndrome caused by somatic mosaicism in the NLRP3 gene.
| Patient | Clinical symptoms | Duration of symptoms (years)/age at diagnosis (years) | Median Pre-treatment SAA/CRP (mg/l) | DNA substitution/protein variant (NCBI Ref Seq: NM_001243133.1) | MAF mean (%) | Coverage of mutation mean (X) |
|---|---|---|---|---|---|---|
| 1 | UR, HF, BSD, conjunctivitis, headaches, papilledema | 20/65–70 | 415/82 | c.1688A > G/p.Y563C | 5.1 | 1,994 |
| 2 | UR, HF, BSD, arthralgia, headaches, nausea, diarrhea, and marked lymphadenopathy | 10/60–65 | 446/53 | c.1688A > G/p.Y563C | 3.2 | 11,969 |
| 3 | UR, HF, BSD, iritis, optic neuritis, papilledema, nephrotic syndrome, weight loss, AA amyloidosis | 10/60–65 | 473/162 | c.1688A > G/p.Y563C | 11.1 | 1,085 |
| 4 | UR, HF, BSD, abdominal pain, fatigue, bilateral clubbing, nephrotic syndrome, weight loss, AA amyloidosis | 20/65–70 | 79/42 | c.1054G > A/p.A352T | 14.6 | 6,738 |
| 5 | UR, HF, BSD, lymphadenopathy, conjunctivitis, died of pancreatic cancer | 8/75–80 | 397/108 | c.1706G > T/p.G569V | 21.1 | 2,535 |
| 6 | UR, HF, BSD, conjunctivitis, fatigue, arthralgia, headaches, bilateral clubbing; papilledema chronic aseptic meningitis | 10/50–55 | 121/54 | c.1699G > A/p.E567K | 5.4 | 1,293 |
| 7 | UR, HF, BSD, arthralgia and myalgia, conjunctivitis, and severe headaches. | 20/50–55 | 276/291 | c.1700 G > C/p.E567Q | 15 | 4,612 |
| 8 | UR, HF, BSD, headaches, myalgia | 15/65–70 | Not done/146 | c.1691G > A/p.G564D | 5.0 | 2,592 |
UR, urticaria-like rash induced by cold; HF, high-grade fever; BSD, bilateral sensorineural deafness; MAF, mutant allele frequency; SAA, serum amyloid A; CRP, C-reactive protein (normal range for SAA and CRP ≤ 10 mg/l).