Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)

Research output: Contribution to conferencePosterpeer-review

Abstract

Introduction: Cryopyrin associated periodic syndromes (CAPS) are rare autoinflammatory disorders associated with dominantly gain-offunction mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. It has been reported that oligomeric particles of the adaptor ASC (apoptosis-associated Speck-likeprotein with a caspase-recruitment domain) are released together with IL-1beta and active caspase-1 subunits after activation of theinflammosome complex and that patients with CAPS show an increased serum concentration of ASC+ particles.Objectives: The diagnosis of CAPS is a critical factor due to both the lack of specific laboratory results and the sharing of similar clinicalmanifestations with other autoinflammatory diseases, our aim is to develop a simple assay to evaluate the levels of ASC particles in the serum of CAPS patients to provide novel biomarkers facilitating early disease diagnosis and able to monitor treatment responses.Methods: We developed an ELISA for the quantification of ASC particles in serum and plasma of normal and pathological subjects. We analysed samples from CAPS patients and from patients with autoimmune disorders (Multiple Sclerosis (MS), Type 1 Diabetes (T1D) andjuvenile idiopathic arthritis), to confirm that ASC presence in the serum is not due to other chronic inflammatory processes characterizingautoimmunity. In addition, we also evaluated the concentration of ASC in the sera of TNF receptor–associated periodic syndrome (TRAPS) patients to reinforce the concept of specificity of this biomarker in CAPS patients and not in individuals suffering from others inflammatory disorders.Results: We observed that untreated CAPS patients are characterized by the presence of a significant higher amount of ASC particles whencompared with healthy controls (HS) and with patients suffering from MS and T1D. This tendency was also evident in patients with arthritisand TRAPS even if the difference was not statistically significant due to the small number of samples. In addition there is a tendency through a reduction of ASC levels in CAPS patients after pharmacological treatment, which require future investigations.Conclusion: These data suggest that ELISA quantitation of ASC protein could represent a novel and additional strategy for the diagnosisand monitoring of CAPS.
Original languageEnglish
Number of pages1
Publication statusPublished - 2019

Fingerprint

Dive into the research topics of 'Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)'. Together they form a unique fingerprint.

Cite this