In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation
Carregando...
Citações na Scopus
3
Tipo de produção
article
Data de publicação
2022
Título da Revista
ISSN da Revista
Título do Volume
Editora
ACADEMIC PRESS INC ELSEVIER SCIENCE
Autores
LEAL, Vinicius Nunes Cordeiro
ROA, Mariela Estefany Gislene Vera
CAMBUI, Raylane Adrielle Goncalves
TOLEDO, Eliana
Citação
CLINICAL IMMUNOLOGY, v.245, article ID 109159, 8p, 2022
Resumo
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.
Palavras-chave
Autoinflammatory diseases, NLRP3, CAPS, Cryopirin-associated periodic syndrome
Referências
- Aksentijevich I, 2021, NAT REV RHEUMATOL, V17, P405, DOI 10.1038/s41584-021-00614-1
- Arostegui JI, 2004, ARTHRITIS RHEUM-US, V50, P4045, DOI 10.1002/art.20633
- Canna SW, 2014, NAT GENET, V46, P1140, DOI 10.1038/ng.3089
- Carta S, 2015, P NATL ACAD SCI USA, V112, P2835, DOI 10.1073/pnas.1424741112
- Gaggiano C, 2019, MEDIAT INFLAMM, V2019, DOI 10.1155/2019/3293145
- Gattorno M, 2007, ARTHRITIS RHEUM, V56, P3138, DOI 10.1002/art.22842
- Gattorno M, 2019, ANN RHEUM DIS, V78, P1025, DOI 10.1136/annrheumdis-2019-215048
- Gusdorf L, 2020, J EUR ACAD DERMATOL, V34, P685, DOI 10.1111/jdv.15984
- Harapas CR, 2018, CURR RHEUMATOL REP, V20, DOI 10.1007/s11926-018-0750-4
- Jeskey J, 2020, ALLERGY RHINOL, V11, DOI 10.1177/2152656720928062
- Jesus AA, 2012, J CLIN IMMUNOL, V32, P922, DOI 10.1007/s10875-012-9688-x
- Kelley N, 2019, INT J MOL SCI, V20, DOI 10.3390/ijms20133328
- Levy D, 2021, RMD OPEN, V7, DOI 10.1136/rmdopen-2021-001824
- Magnotti F, 2019, EMBO MOL MED, V11, DOI 10.15252/emmm.201910547
- Nakanishi H, 2020, FRONT NEUROL, V11, DOI 10.3389/fneur.2020.00141
- Rieber N, 2015, CLIN IMMUNOL, V157, P56, DOI 10.1016/j.clim.2015.01.003
- Rusmini M, 2016, ANN RHEUM DIS, V75, P1550, DOI 10.1136/annrheumdis-2015-207701
- Saito M, 2008, BLOOD, V111, P2132, DOI 10.1182/blood-2007-06-094201
- Tanaka N, 2011, ARTHRITIS RHEUM-US, V63, P3625, DOI 10.1002/art.30512
- Tangye SG, 2021, J CLIN IMMUNOL, V41, P666, DOI 10.1007/s10875-021-00980-1
- Van Gorp H, 2020, ANN RHEUM DIS, V79, P960, DOI 10.1136/annrheumdis-2019-216701
- Welzel T, 2021, J CLIN MED, V10, DOI 10.3390/jcm10010128
Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/19
Artigos e Materiais de Revistas Científicas - LIM/60
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/19
Artigos e Materiais de Revistas Científicas - LIM/60