Citation: | ZHOU Yu, SONG Hongmei. Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 271-277. DOI: 10.12290/xhyxzz.2023-0043 |
[1] |
Masters SL, Simon A, Aksentijevich I, et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)[J]. Annu Rev Immunol, 2009, 27: 621-68. DOI: 10.1146/annurev.immunol.25.022106.141627
|
[2] |
Ahmadi N, Brewer CC, Zalewski C, et al. Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations[J]. Otolaryngol Head Neck Surg, 2011, 145: 295-302. DOI: 10.1177/0194599811402296
|
[3] |
Dollfus H, Hafner R, Hofmann HM, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood[J]. Arch Ophthalmol, 2000, 118: 1386-1392. DOI: 10.1001/archopht.118.10.1386
|
[4] |
Hill SC, Namde M, Dwyer A, et al. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)[J]. Pediatr Radiol, 2007, 37: 145-152. DOI: 10.1007/s00247-006-0358-0
|
[5] |
Lane T, Loeffler JM, Rowczenio DM, et al. AA amyloidosis complicating the hereditary periodic fever syndromes[J]. Arthritis Rheum, 2013, 65: 1116-1121. DOI: 10.1002/art.37827
|
[6] |
Levy R, Gerard L, Kuemmerle-Deschner J, et al. Pheno-typic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry[J]. Ann Rheum Dis, 2015, 74: 2043-2049.
|
[7] |
Lachmann HJ, Papa R, Gerhold K, et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry[J]. Ann Rheum Dis, 2014, 73: 2160-2167. DOI: 10.1136/annrheumdis-2013-204184
|
[8] |
Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever[J]. Ann Rheum Dis, 2016, 75: 644-651. DOI: 10.1136/annrheumdis-2015-208690
|
[9] |
Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist[J]. Ann Rheum Dis, 2022, 81: 907-921. DOI: 10.1136/annrheumdis-2021-221801
|
[10] |
Romano M, Arici ZS, Piskin D, et al. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Arthritis Rheumatol, 2022, 74: 1102-1121. DOI: 10.1002/art.42139
|
[11] |
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)[J]. Ann Rheum Dis, 2017, 76: 942-947. DOI: 10.1136/annrheumdis-2016-209686
|
[12] |
Zhou Y, Wang W, Zhong L, et al. Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature[J]. Orphanet J Rare Dis, 2022, 17: 214. DOI: 10.1186/s13023-022-02364-z
|
[13] |
Sobolewska B, Angermair E, Deuter C, et al. NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms[J]. J Rheumatol, 2016, 43: 1101-1106. DOI: 10.3899/jrheum.150681
|
[14] |
Kilic H, Sahin S, Duman C, et al. Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome[J]. Eur J Paediatr Neurol, 2019, 23: 466-472. DOI: 10.1016/j.ejpn.2019.03.006
|
[15] |
Li C, Tan X, Zhang J, et al. Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS)[J]. Sci China Life Sci, 2017, 60: 1436-1444. DOI: 10.1007/s11427-017-9246-4
|
[16] |
Livneh A, Drenth JP, Klasen IS, et al. Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features[J]. J Rheumatol, 1997, 24: 1558-1563.
|
[17] |
van der Hilst JCH, Bodar EJ, Barron KS, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome[J]. Medicine (Baltimore), 2008, 87: 301-310. DOI: 10.1097/MD.0b013e318190cfb7
|
[18] |
Jeyaratnam J, Ter Haar NM, de Sain-van der Velden MG, et al. Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)[J]. JIMD Rep, 2016, 27: 33-38.
|
[19] |
Garg M, de Jesus AA, Chapelle D, et al. Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist[J]. JCI Insight, 2017, 2: e94838. DOI: 10.1172/jci.insight.94838
|
[20] |
Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes[J]. Am J Hum Genet, 2002, 71: 198-203. DOI: 10.1086/341357
|
[21] |
Mcdermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes[J]. Cell, 1999, 97: 133-144. DOI: 10.1016/S0092-8674(00)80721-7
|
[22] |
D'osualdo A, Picco P, Caroli F, et al. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever[J]. Eur J Hum Genet, 2005, 13: 314-320. DOI: 10.1038/sj.ejhg.5201323
|
[23] |
Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist[J]. N Engl J Med, 2009, 360: 2426-2437. DOI: 10.1056/NEJMoa0807865
|
[24] |
Rowczenio DM, Gomes SM, Arostegui JI, et al. Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience[J]. Front Immunol, 2017, 8: 1410. DOI: 10.3389/fimmu.2017.01410
|
[25] |
Sibley CH, Plass N, Snow J, et al. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anak-inra: a cohort study to determine three- and five-year outcomes[J]. Arthritis Rheum, 2012, 64: 2375-2386. DOI: 10.1002/art.34409
|
[26] |
Hoffman HM, Throne ML, Amar NJ, et al. Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study[J]. Clin Ther, 2012, 34: 2091-2103. DOI: 10.1016/j.clinthera.2012.09.009
|
[27] |
Brogan PA, Hofer M, Kuemmerle-Deschner JB, et al. Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger[J]. Arthritis Rheumatol, 2019, 71: 1955-1963. DOI: 10.1002/art.41004
|
[28] |
Piram M, Kone-Paut I, Lachmann HJ, et al. Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes[J]. Ann Rheum Dis, 2014, 73: 2168-2173. DOI: 10.1136/annrheumdis-2013-203666
|
[29] |
Batchelor HK, Marriott JF. Paediatric pharmacokinetics: key considerations[J]. Br J Clin Pharmacol, 2015, 79: 395-404. DOI: 10.1111/bcp.12267
|
[30] |
Bodar EJ, Kuijk LM, Drenth JP, et al. On-demand anakinra treatment is effective in mevalonate kinase deficiency[J]. Ann Rheum Dis, 2011, 70: 2155-2158. DOI: 10.1136/ard.2011.149922
|
[31] |
Grimwood C, Despert V, Jeru I, et al. On-demand treatment with anakinra: a treatment option for selected TRAPS patients[J]. Rheumatology (Oxford), 2015, 54: 1749-1751. DOI: 10.1093/rheumatology/kev111
|
[32] |
Rodriguez-Smith J, Lin YC, Tsai WL, et al. Cerebrospinal Fluid Cytokines Correlate With Aseptic Meningitis and Blood-Brain Barrier Function in Neonatal-Onset Multisystem Inflammatory Disease: Central Nervous System Biomarkers in Neonatal-Onset Multisystem Inflammatory Disease Correlate With Central Nervous System Inflammation[J]. Arthritis Rheumatol, 2017, 69: 1325-1336. DOI: 10.1002/art.40055
|
[33] |
Kuemmerle-Deschner JB, Welzel T, Hoertnagel K, et al. New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation[J]. Rheumatology (Oxford), 2020, 59: 3259-3263. DOI: 10.1093/rheumatology/keaa119
|
[34] |
Papa R, Lane T, Minden K, et al. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry[J]. J Allergy Clin Immunol Pract, 2021, 9: 783-991. e4. DOI: 10.1016/j.jaip.2020.10.053
|
[35] |
Ozen S, Kuemmerle-Deschner JB, Cimaz R, et al. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome[J]. Arthritis Care Res (Hoboken), 2017, 69: 578-586. DOI: 10.1002/acr.23120
|
[36] |
Obici L, Meini A, Cattalini M, et al. Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis[J]. Ann Rheum Dis, 2011, 70: 1511-1512. DOI: 10.1136/ard.2010.143438
|
[37] |
Ter Haar NM, Jeyaratnam J, Lachmann HJ, et al. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry[J]. Arthritis Rheumatol, 2016, 68: 2795-2805. DOI: 10.1002/art.39763
|
[38] |
de Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes[J]. N Engl J Med, 2018, 378: 1908-1919. DOI: 10.1056/NEJMoa1706314
|
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