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1/2026
vol. 101 Case report
The case of a patient with familial cold autoinflammatory syndrome-2 caused by the NLRP12 mutation associated with severe polyarthritis
Magdalena Rutkowska-Zapała
1, 2
,
Anna Szaflarska
1, 2
Pediatr Pol 2026; 101 (1): 81-86
Online publish date: 2026/03/16
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- The case of a patient - Rutkowska.pdf
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1. Poli MC, Aksentijevich I, Bousfiha AA, Cunningham-Rundles C, Hambleton S, Klein C, et al. Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. J Hum Immun 2025; 1: e20250003. 2.
Tanaka N, Izawa K, Saito MK. Familial cold autoinflammatory syndrome. In: GeneReviews®. University of Washington, Seattle 1993–2024. 3.
Hoffman HM, Broderick L. The role of the inflammasome in patients with autoinflammatory diseases. J Allergy Clin Immunol 2016; 138: 3-14. 4.
Aksentijevich I, Masters SL. Autoinflammatory diseases: an update on diagnosis and treatment. Curr Opin Rheumatol 2016; 28: 511-519. 5.
Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum 2011; 63: 830-839. 6.
Shen M, Tang L, Shi X, Zeng X, Yao Q. NLRP12 autoinflammatory disease: a Chinese case series and literature review. Clin Rheumatol 2017; 36: 1661-1667. 7.
Del Porto F, Cifani N, Proietta M, Verrecchia E, di Rosa R, Manna R, et al. NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence. Rheumatology (Oxford) 2020; 59: 3129-3136. 8.
Cichoń M, Zielińska P, Zaucha JM, Zarzycka E, Trzeciak M. Cold-induced urticaria-like lesions related to NLRP-12 mutation. J Eur Acad Dermatol Venereol 2023; 37: e874-e876. 9.
Gmuca S, Weiss PF. Juvenile spondyloarthritis. Curr Opin Rheumatol 2015; 27: 364-372. 10.
Srinivasalu H, Sikora KA, Colbert RA. Recent updates in juvenile spondyloarthritis. Rheum Dis Clin North Am 2021; 47: 565-583. 11.
Smolen JS, Landewé RBM, Bergstra SA, Kerschbaumer A, Sepriano A, Aletaha D, et al. EULAR recommendations for the management of rheumatoid arthritis with synthetic and biological disease-modifying antirheumatic drugs: 2022 update. Ann Rheum Dis 2023; 82: 3-18. Erratum in: Ann Rheum Dis 2023; 82: e76. 12.
Williams KL, Lich JD, Duncan JA, Reed W, Rallabhandi P, Moore C, et al. The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals. J Biol Chem 2005; 280: 39914-39924. 13.
Ye Z, Lich JD, Moore CB, Duncan JA, Williams KL, Ting JP. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function. Mol Cell Biol 2008; 28: 1841-150. 14.
Jéru I, Le Borgne G, Cochet E, Hayrapetyan H, Duquesnoy P, Grateau G, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum 2011; 63: 1459-1464. 15.
Tuladhar S, Kanneganti TD. NLRP12 in innate immunity and inflammation. Mol Aspects Med 2020; 76: 100887. 16.
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Aguilera MA, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics 2019, 35: 1978-1980. 17.
Kostik MM, Suspitsin EN, Guseva MN, Levina AS, Kazantseva AY, Sokolenko AP, et al. Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders. Rheumatol Int 2018; 38: 887-893. 18.
Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, et al. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. PLoS Genet 2019; 15: e1008180. Erratum in: PLoS Genet 2020; 16: e1008737. 19.
Suspitsin EN, Guseva MN, Kostik MM, Sokolenko AP, Skripchenko NV, Levina AS, et al. Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity. Clin Genet 2020; 98: 231-239. 20.
Bozgeyik E, Mercan R, Arslan A, Tozkir H. Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics. Genomics 2020; 112: 2755-2762.
Copyright: © 2026 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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