Background: We present the first report of high-titer autoantibodies in NLRP3 -associated autoinflammatory disease( NLRP3 -AID).Because systemic autoinflammatory disease(SAID) is characterised by the lack of autoreactive T-cells or autoantibodies,we made a systemic review on the theme of autoantibody in SAID to clarify this phenomenon.

Objectives: We present the first report of high-titer autoantibodies NLRP 3-AID, and discuss autoantibody in classical SAID.

Methods: We collected the clinical data of the patient with NLRP3 -AID who had high-titer autoantibodies,and made a systemic review about autoantibody in SAID.

Results: A 38-year-old Chinese Han patient was definitely diagnosed as NLRP3 -AID because of cold-triggered urticaria-like rash and fever,arthralgia,binaural sensorineural deafness,chronic meningitis,high inflammatory marker and de novo NLRP3 T348M variant. Figure 1 shows pedigree of the patient.Meanwhile,she had positive antinuclear antibody(ANA) with a nucleolar pattern of 1:160, positive anti-β2GPI antibody 54-68 AU/ml (normal range < 20 AU/ml) and positive lupus anticoagulant 1.24-1.29 (normal range ≤ 1.2). Literature review found that 13 articles reported autoantibodies in Familial Mediterranean fever (FMF), and there was no autoantibody reported in hyperimmunoglobulinemia D syndrome (HIDS),TNF receptor–associated periodic syndrome(TRAPS) and NLRP3 -AID. The prevalence of ANA,anti-dsDNA,RF and anti-CCP in patients with FMF was similar to healthy controls.

Fig. 1.

Pedigree of the patient. The black arrow indicates the proband. The asterisks indicate the individuals who had clinical manifestations and carry the NLRP3 T348M variant.

Conclusion: Patients with NLRP3 -AID can have high-titer ANA and APLs by accident. If patients with high-titer autoantibodies have characteristic manifestations of SAIDs instead of typical features of autoimmune diseases, we should make the final diagnosis through detailed investigation and genetic testing.

REFERENCES:

[1]Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Annals of the rheumatic diseases 2018; 77(11): 1558-65.

[2]Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Annals of the rheumatic diseases 2017; 76(6): 942-7.

Disclosure of Interests: None declared