In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients A Brazilian cooperation

In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients : A Brazilian cooperation

Copyright © 2022. Published by Elsevier Inc.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 245(2022) vom: 30. Dez., Seite 109159
1. Verfasser: Mendonça, Leonardo Oliveira (VerfasserIn)
Weitere Verfasser: Toledo-Barros, Myrthes Anna Maragna, Leal, Vinicius Nunes Cordeiro, Roa, Mariela Estefany Gislene Vera, Cambuí, Raylane Adrielle Gonçalves, Toledo, Eliana, Barros, Samar Freschi, de Oliveira, Amanda Melato, Rivitti-Machado, Maria Cecília, Francescantonio, Isadora Carvalho Medeiros, Grumach, Anete Sevciovic, de Oliveira Penido, Norma, Castro, Fabio Fernandes Morato, Kalil, Jorge, Pontillo, Alessandra
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2022
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Autoinflammatory diseases CAPS Cryopirin-associated periodic syndrome NLRP3 NLR Family, Pyrin Domain-Containing 3 Protein Inflammasomes
Beschreibung
Zusammenfassung:Copyright © 2022. Published by Elsevier Inc.
OBJECTIVE: To report our five-years experience on the use of NLRP3 inflammasome functional assays in the differential diagnosis of Brazilian patients with a clinical suspicion of CAPS
PATIENTS AND METHODS: The study included 9 patients belonging to 2 families (I, II) and 7 unrelated patients with a clinical suspicion of AID according to Eurofever/PRINTO classification, recruited between 2017 and 2022. The control group for the NLRP3 functional assay consisted of 10 healthy donors and for the CBA cytokines measurement of 19 healthy controls. Patients underwent clinical evaluation, genetic and functional analysis
RESULTS: All members of the family I received the diagnosis of Muckle-Wells Syndrome (MWS), carried the NLRP3 Thr348Met variant and resulted positive for the functional assay. The 2 patients of the family II resulted negative for the mutational screening but positive for the functional assay compatible with a MWS clinical phenotype. In 2 unrelated patients with NLRP3 mutations, including a novel mutation (Gly309Val, Asp303His), a positive functional test confirmed the clinical diagnosis of NOMID. 3 unrelated MWS and 1 FCAS patients resulted negative to the genetic screening and positive for the functional test. One patient with a FCAS-like phenotype harbored the NLRP12 His304Tyr variant confirming the diagnosis of FCAS2
CONCLUSION: The NLRP3 inflammasome functional assay can assist the clinical diagnosis of CAPS even in patients with unknown genetic defects
Beschreibung:Date Completed 25.11.2022
Date Revised 26.12.2022
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2022.109159