Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children

References

• Federici S, Sormani MP, Ozen S, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis. 2015;74(5):799–805. doi:10.1136/ANNRHEUMDIS-2014-206580.
   PubMed Web of Science ®Google Scholar
• Schroder K, Tschopp J. The inflammasomes. Cell. 2010;140(6):821–832. doi:10.1016/J.CELL.2010.01.040.
   PubMed Web of Science ®Google Scholar
• Kaneko N, Kurata M, Yamamoto T, Morikawa S, Masumoto J. The role of interleukin-1 in general pathology. Inflamm Regen. 2019;39(1). doi:10.1186/S41232-019-0101-5.
   PubMedGoogle Scholar
• Goldbach-Mansky R, Kastner DL. Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol. 2009;124(6):1141–1149. doi:10.1016/J.JACI.2009.11.016.
   PubMed Web of Science ®Google Scholar
• Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8):1025–1032. doi:10.1136/ANNRHEUMDIS-2019-215048.
   PubMed Web of Science ®Google Scholar
• Onen F. Familial Mediterranean fever. Rheumatol Int. 2006;26(6):489–496. doi:10.1007/S00296-005-0074-3.
   PubMed Web of Science ®Google Scholar
• Yazici A, Ozdal P, Yuksekkaya P, Elgin U, Teke MY, Sari E. Ophthalmic manifestations in familial Mediterranean fever: a case series of 6 patients. Eur J Ophthalmol. 2014;24(4):593–598. doi:10.5301/EJO.5000398.
   PubMed Web of Science ®Google Scholar
• Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum. 2009;61(10):1447–1453. doi:10.1002/ART.24458.
   PubMed Web of Science ®Google Scholar
• Wan CK, He C, Sun L, Egwuagu CE, Leonard WJ. Cutting edge: IL-1 receptor signaling is critical for the development of autoimmune uveitis. J Immunol. 2016;196(2):543–546. doi:10.4049/JIMMUNOL.1502080.
   PubMed Web of Science ®Google Scholar
• Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. The pyrin inflammasome in health and disease. Front Immunol. 2019;10:1745. doi:10.3389/FIMMU.2019.01745.
   PubMed Web of Science ®Google Scholar
• Park YH, Wood G, Kastner DL, Chae JJ. Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS. Nat Immunol. 2016;17(8):914–921. doi:10.1038/NI.3457.
   PubMed Web of Science ®Google Scholar
• Lancieri M, Bustaffa M, Palmeri S, et al. An update on familial Mediterranean fever. Int J Mol Sci. 2023;24(11):9584. doi:10.3390/IJMS24119584.
   PubMed Web of Science ®Google Scholar
• Sari I, Birlik M, Kasifoglu T. Familial Mediterranean fever: an updated review. Eur J Rheumatol. 2014;1(1):21–33. doi:10.5152/EURJRHEUM.2014.006.
   PubMedGoogle Scholar
• Majeed HA, Rawashdeh M, El-Shanti H, Qubain H, Khuri-Bulos N, Shahin HM. Familial Mediterranean fever in children: the expanded clinical profile. QJM. 1999;92(6):309–318. doi:10.1093/QJMED/92.6.309.
   PubMed Web of Science ®Google Scholar
• Özçakar ZB, Yalçinkaya F, Çakar N, et al. Application of the new pediatric criteria and tel hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr. 2011;170(8):1055–1057. doi:10.1007/S00431-011-1404-Y.
   PubMed Web of Science ®Google Scholar
• Yalçinkaya F, Özen S, Özçakar ZB, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford). 2009;48(4):395–398. doi:10.1093/RHEUMATOLOGY/KEN509.
   PubMed Web of Science ®Google Scholar
• Petrushkin H, Stanford M, Fortune F, Jawad AS. Clinical review: familial Mediterranean Fever-An Overview of Pathogenesis, symptoms, ocular manifestations, and treatment. Ocul Immunol Inflamm. 2016;24(4):422–430. doi:10.3109/09273948.2015.1010012.
   PubMed Web of Science ®Google Scholar
• Georgakopoulos CD, Antonopoulos I, Makri OE, Vasilakis P, Liossis SNC, Andonopoulos AP. Acute posterior multifocal placoid pigment epitheliopathy in a patient with familial Mediterranean fever. Clin Exp Optom. 2016;99(4):385–387. doi:10.1111/CXO.12401.
   PubMed Web of Science ®Google Scholar
• Maccora I, Marrani E, Mastrolia MV, et al. Ocular involvement in monogenic autoinflammatory disease. Autoimmun Rev. 2021;20(11):102944. doi:10.1016/J.AUTREV.2021.102944.
   PubMed Web of Science ®Google Scholar
• Gundogan FC, Akay F, Uzun S, Ozge G, Toyran S, Genç H. Choroidal thickness changes in the acute attack period in patients with familial Mediterranean fever. Ophthalmologica. 2016;235(2):72–77. doi:10.1159/000442216.
   PubMed Web of Science ®Google Scholar
• Thapa S, Kharel R, Shrestha J. Role of choroidal thickness assessment in unilateral acute anterior uveitis. Indian J Ophthalmol. 2020;68(9):1869–1874. doi:10.4103/IJO.IJO_688_20.
   PubMed Web of Science ®Google Scholar
• Mkrtchyan GM, Boyajyan AS, Ayvazyan AA, Beglaryan AA. Classical pathway complement activity in familial Mediterranean fever. Clin Biochem. 2006;39(7):688–691. doi:10.1016/J.CLINBIOCHEM.2006.02.016.
   PubMed Web of Science ®Google Scholar
• Cudrici C, Deuitch N, Aksentijevich I. Revisiting TNF receptor-associated periodic syndrome (TRAPS): Current perspectives. Int J Mol Sci. 2020;21(9):3263. doi:10.3390/IJMS21093263.
   PubMed Web of Science ®Google Scholar
• Zegarska J, Wiesik-Szewczyk E, Hryniewiecka E, et al. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with a new pathogenic variant in TNFRSF1A gene in a family of the adult male with renal AA amyloidosis-diagnostic and therapeutic challenge for Clinicians. J Clin Med. 2021;10(3):1–10. doi:10.3390/JCM10030465.
   Web of Science ®Google Scholar
• 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. Ann Rheum Dis. 2014;73(12):2160–2167. doi:10.1136/ANNRHEUMDIS-2013-204184.
   PubMed Web of Science ®Google Scholar
• Van Gijn ME, Ceccherini I, Shinar Y, et al. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the international study group for systemic autoinflammatory diseases (INSAID). J Med Genet. 2018;55(8):530–537. doi:10.1136/JMEDGENET-2017-105216.
   PubMed Web of Science ®Google Scholar
• 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. Cell. 1999;97(1):133–144. doi:10.1016/S0092-8674(00)80721-7.
   PubMed Web of Science ®Google Scholar
• Cocho L, Urbaneja E, Herreras JM. Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association. Int Ophthalmol. 2019;39(1):219–223. doi:10.1007/S10792-017-0785-Y.
   PubMed Web of Science ®Google Scholar
• Favier LA, Schulert GS. Mevalonate kinase deficiency: current perspectives. Appl Clin Genet. 2016;9:101–110. doi:10.2147/TACG.S93933.
   PubMedGoogle Scholar
• Houten SM, van Woerden CS, Wijburg FA, Wanders RJA, Waterham HR. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet. 2003;11(2):196–200. doi:10.1038/SJ.EJHG.5200933.
   PubMed Web of Science ®Google Scholar
• Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J. 2016;14(1). doi: 10.1186/S12969-016-0091-7.
   Google Scholar
• Çağlayan Ş, Mardinoğlu G, Yarar MH, et al. The assessment of autoinflammatory disease classification criteria (eurofever/PRINTO) in a real-life cohort. Clin Rheumatol. 2023;42(6):1645–1653. doi:10.1007/S10067-023-06557-0.
   PubMed Web of Science ®Google Scholar
• Agarwal N, Kothari M. Uveitis, glaucoma, and cataract with mevalonate kinase deficiency. J Aapos. 2022;26(2):93–95. doi:10.1016/J.JAAPOS.2021.11.009.
   PubMed Web of Science ®Google Scholar
• Shinkai K, McCalmont TH, Leslie KS. Cryopyrin-associated periodic syndromes and autoinflammation. Clin Exp Dermatol. 2008;33(1):1–9. doi:10.1111/J.1365-2230.2007.02540.X.
   PubMed Web of Science ®Google Scholar
• Yu JR, Leslie KS. Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response. Curr Allergy Asthma Rep. 2011;11(1):12–20. doi:10.1007/S11882-010-0160-9.
   PubMed Web of Science ®Google Scholar
• Kuemmerle-Deschner JB. CAPS–pathogenesis, presentation and treatment of an autoinflammatory disease. Semin Immunopathol. 2015;37(4):377–385. doi:10.1007/S00281-015-0491-7.
   PubMed Web of Science ®Google Scholar
• Mehr S, Allen R, Boros C, et al. Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics. J Paediatr Child Health. 2016;52(9):889–895. doi:10.1111/JPC.13270.
   PubMed Web of Science ®Google Scholar
• Tran TA. Muckle-Wells syndrome: clinical perspectives. Open Access Rheumatol. 2017;9:123–129. doi:10.2147/OARRR.S114447.
   PubMed Web of Science ®Google Scholar
• Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014;12(1): doi: 10.1186/1546-0096-12-33.
   PubMedGoogle Scholar
• Chiu B, Chan J, Das S, Alshamma Z, Sergi C. Pediatric sarcoidosis: a review with emphasis on early onset and high-risk sarcoidosis and diagnostic challenges. Diagnostics (Basel). 2019;9(4):160. doi:10.3390/DIAGNOSTICS9040160.
   PubMedGoogle Scholar
• Kaufman KP, Becker ML. Distinguishing blau syndrome from systemic sarcoidosis. Curr Allergy Asthma Rep. 2021;21(2): doi: 10.1007/S11882-021-00991-3.
   PubMed Web of Science ®Google Scholar
• Sfriso P, Caso F, Tognon S, Galozzi P, Gava A, Punzi L. Blau syndrome, clinical and genetic aspects. Autoimmun Rev. 2012;12(1):44–51. doi:10.1016/J.AUTREV.2012.07.028.
   PubMed Web of Science ®Google Scholar
• Rosé CD, Pans S, Casteels I, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008–1016. doi:10.1093/RHEUMATOLOGY/KEU437.
   PubMed Web of Science ®Google Scholar
• Sarens IL, Casteels I, Anton J, et al. Blau syndrome-associated uveitis: preliminary results from an international prospective interventional case series. Am J Ophthalmol. 2018;187:158–166. doi:10.1016/J.AJO.2017.08.017.
   PubMed Web of Science ®Google Scholar
• Carreño E, Guly CM, Chilov M, et al. Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). Acta Ophthalmol. 2015;93(3):253–257. doi:10.1111/AOS.12544.
   PubMed Web of Science ®Google Scholar
• Williams LB, Javed A, Sabri A, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019;21(9):2103–2115. doi:10.1038/S41436-019-0476-3.
   PubMed Web of Science ®Google Scholar
• Zhou P, She Y, Dong N, et al. Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose. Nature. 2018;561(7721):122–126. doi:10.1038/S41586-018-0433-3.
   PubMed Web of Science ®Google Scholar
• Kozycki CT, Kodati S, Huryn L, et al. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022;81(10):1453–1464. doi:10.1136/ANNRHEUMDIS-2022-222629.
   PubMed Web of Science ®Google Scholar
• Huryn LA, Kozycki CT, Serpen JY, et al. Ophthalmic manifestations of ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, an Inherited NF κB-Mediated autoinflammatory disease with retinal dystrophy. Ophthalmology. 2023;130(4):423–432. doi:10.1016/J.OPHTHA.2022.10.026.
   PubMed Web of Science ®Google Scholar
• Aeschlimann FA, Batu ED, Canna SW, et al. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis. 2018;77(5):728–735. doi:10.1136/ANNRHEUMDIS-2017-212403.
   PubMed Web of Science ®Google Scholar
• Wartz IE, O’Rourke KM, Zhou H, et al. De-ubiquitination and ubiquitin ligase domains of A20 downregulate NF-kappaB signalling. Nature. 2004;430(7000):694–699. doi:10.1038/NATURE02794.
   PubMed Web of Science ®Google Scholar
• Berteau F, Rouviere B, Delluc A, et al. Autosomic dominant familial behçet disease and haploinsufficiency A20: a review of the literature. Autoimmun Rev. 2018;17(8):809–815. doi:10.1016/J.AUTREV.2018.02.012.
   PubMed Web of Science ®Google Scholar
• Ohnishi H, Kawamoto N, Seishima M, Ohara O, Fukao T. A Japanese family case with juvenile onset Behçet’s disease caused by TNFAIP3 mutation. Allergol Int. 2017;66(1):146–148. doi:10.1016/J.ALIT.2016.06.006.
   PubMed Web of Science ®Google Scholar
• Shigemura T, Kaneko N, Kobayashi N, et al. Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet’s disease. RMD Open. 2016;2(1). doi:10.1136/RMDOPEN-2015-000223.
   PubMedGoogle Scholar
• Takagi M, Ogata S, Ueno H, et al. Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2017;139(6):1914–1922. doi:10.1016/J.JACI.2016.09.038.
   PubMed Web of Science ®Google Scholar
• Duncan CJA, Dinnigan E, Theobald R, et al. Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20). Ann Rheum Dis. 2018;77(5):783–786. doi:10.1136/ANNRHEUMDIS-2016-210944.
   PubMed Web of Science ®Google Scholar
• Shaheen ZR, Williams SJA, Binstadt BA. Case report: a novel TNFAIP3 mutation causing haploinsufficiency of A20 with a lupus-like phenotype. Front Immunol. 2021;12:629457. doi:10.3389/FIMMU.2021.629457.
   PubMed Web of Science ®Google Scholar
• Zanatta L, Biscaro F, Bresolin S, et al. Case report: an early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency. Front Pediatr. 2022;10:1044007. doi:10.3389/FPED.2022.1044007.
   PubMed Web of Science ®Google Scholar
• Aslani N, Asnaashari K, Parvaneh N, et al. TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases. Pediatr Rheumatol Online J. 2022;20(1). doi:10.1186/S12969-022-00735-1.
   PubMed Web of Science ®Google Scholar
• Chen Y, Ye Z, Chen L, et al. Association of clinical phenotypes in haploinsufficiency A20 (HA20) with disrupted domains of A20. Front Immunol. 2020;11:574992. doi:10.3389/FIMMU.2020.574992.
   PubMed Web of Science ®Google Scholar
• Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508–1520. doi:10.1007/S10875-022-01352-Z.
   PubMed Web of Science ®Google Scholar
• Moghaddas F, Masters SL. The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders. Clin Sci (Lond). 2018;132(17):1901–1924. doi:10.1042/CS20171498.
   PubMed Web of Science ®Google Scholar
• Gupta V, Ramam M. Monogenic autoinflammatory syndromes in children: through the dermatologist’s lens. Indian J Pediatr Dermatol. 2018;19(3):194. doi:10.4103/IJPD.IJPD_9_18.
   Google Scholar
• Awad F, Assrawi E, Louvrier C, et al. Inflammasome biology, molecular pathology and therapeutic implications. Pharmacol Ther. 2018;187:133–149. doi:10.1016/J.PHARMTHERA.2018.02.011.
   PubMed Web of Science ®Google Scholar
• Ter HN, Lachmann H, Özen S, et al. Treatment of autoinflammatory diseases: results from the eurofever registry and a literature review. Ann Rheum Dis. 2013;72(5):678–685. doi:10.1136/ANNRHEUMDIS-2011-201268.
   PubMed Web of Science ®Google Scholar
• Soriano A, Soriano M, Espinosa G, et al. Current therapeutic options for the main monogenic autoinflammatory diseases and PFAPA syndrome: evidence-based approach and proposal of a practical guide. Front Immunol. 2020;11:531851. doi:10.3389/FIMMU.2020.00865/BIBTEX.
   Web of Science ®Google Scholar
• Hansmann S, Lainka E, Horneff G, et al. Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative. Pediatr Rheumatol Online J. 2020;18(1). doi:10.1186/S12969-020-0409-3.
   PubMed Web of Science ®Google Scholar
• 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. Ann Rheum Dis. 2022;81(7):907–921. doi:10.1136/ANNRHEUMDIS-2021-221801.
   PubMed Web of Science ®Google Scholar
• Slobodnick A, Shah B, Pillinger MH, Krasnokutsky S. Colchicine: old and new. Am J Med. 2015;128(5):461–470. doi:10.1016/j.amjmed.2014.12.010.
   PubMed Web of Science ®Google Scholar
• Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644–651. doi:10.1136/ANNRHEUMDIS-2015-208690.
   PubMed Web of Science ®Google Scholar
• Martinon F, Pétrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature. 2006;440(7081):237–241. doi:10.1038/nature04516.
   PubMed Web of Science ®Google Scholar
• Indraratna PL, Virk S, Gurram D, Day RO. Use of colchicine in pregnancy: a systematic review and meta-analysis. Rheumatology. 2018;57(2):382–387. doi:10.1093/RHEUMATOLOGY/KEX353.
   PubMed Web of Science ®Google Scholar
• Hardy RS, Raza K, Cooper MS. Therapeutic glucocorticoids: mechanisms of actions in rheumatic diseases. Nat Rev Rheumatol. 2020;16(3):133–144. doi:10.1038/s41584-020-0371-y.
   PubMed Web of Science ®Google Scholar
• Rom E, Amarilyo G, Levinski Y, et al. Protracted febrile myalgia syndrome treated with pulse of corticosteroids. Semin Arthritis Rheum. 2018;47(6):897–899. doi:10.1016/J.SEMARTHRIT.2017.10.008.
   PubMed Web of Science ®Google Scholar
• Ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74(9):1636–1644. doi:10.1136/ANNRHEUMDIS-2015-207546/-/DC1.
   PubMed Web of Science ®Google Scholar
• Millrine D, Kishimoto T. A brighter side to thalidomide: its potential use in immunological disorders. Trends Mol Med. 2017;23(4):348–361. doi:10.1016/j.molmed.2017.02.006.
   PubMed Web of Science ®Google Scholar
• Drenth J, Vonke A, Simon A, et al. Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharmacol Exp Ther. 2021;298(3): 1221–1226. https://pubmed.ncbi.nlm.nih.gov/11504824/
   Google Scholar
• Yasui K, Yashiro M, Tsuge M, et al. Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. Arthritis Rheum. 2010;62(1):250–257. doi:10.1002/ART.25035.
   PubMed Web of Science ®Google Scholar
• Cavalli G, Dinarello CA. Treating rheumatological diseases and co-morbidities with interleukin-1 blocking therapies. Rheumatology. 2015;54(12):2134–2144. doi:10.1093/RHEUMATOLOGY/KEV269.
   PubMed Web of Science ®Google Scholar
• Malcova H, Strizova Z, Milota T, et al. IL-1 inhibitors in the treatment of monogenic periodic fever syndromes: from the past to the future perspectives. Front Immunol. 2021;11:619257. doi:10.3389/FIMMU.2020.619257/BIBTEX.
   PubMed Web of Science ®Google Scholar
• Sjöström EO, Culot M, Leickt L, et al. Transport study of interleukin-1 inhibitors using a human in vitro model of the blood-brain barrier. Brain Behav Immun Health. 2021;16:100307. doi:10.1016/J.BBIH.2021.100307.
   PubMedGoogle Scholar
• Lopalco G, Rigante D, Giannini M, et al. Safety profile of anakinra in the management of rheumatologic, metabolic and autoinflammatory disorders. Clin Exp Rheumatol. 2016;34(3):531–538. https://www.clinexprheumatol.org/abstract.asp?a=9859. Accessed September 8, 2023
   PubMed Web of Science ®Google Scholar
• Ramírez J, Cañete JD. Anakinra for the treatment of rheumatoid arthritis: a safety evaluation. 2018;17(7):727–732. doi:10.1080/14740338.2018.1486819.
   Google Scholar
• De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018;378(20):1908–1919. doi:10.1056/NEJMOA1706314/SUPPL_FILE/NEJMOA1706314_DISCLOSURES.PDF.
   PubMed Web of Science ®Google Scholar
• Chakraborty A, Tannenbaum S, Rordorf C, et al. Pharmacokinetic and pharmacodynamic properties of canakinumab, a human anti-interleukin-1β monoclonal antibody. Clin Pharmacokinet. 2012;51(6):e1–e18. doi:10.2165/11599820-000000000-00000.
   PubMedGoogle Scholar
• Brogan PA, Hofer M, Kuemmerle-Deschner JB, et al. FRI0503 Efficacy and safety of canakinumab in patients with cryopyrin associated periodic syndromes: an open-label, phase-III, extension study. Ann Rheum Dis. 2016;75(Suppl 2):620–621. doi:10.1136/ANNRHEUMDIS-2016-EULAR.4865.
   Google Scholar
• Hoffman HM, Throne ML, Amar NJ, et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58(8):2443–2452. doi:10.1002/ART.23687.
   PubMed Web of Science ®Google Scholar
• Petrushkin H, Karagiannis DA, Bird A, Jawad ASM. Intermediate uveitis associated with familial Mediterranean fever. Clin Exp Rheumatol. 2015;33:170–170. https://www.clinexprheumatol.org/abstract.asp?a=9496. Accessed September 8, 2023.
   Web of Science ®Google Scholar
• Yazılıtaş F, Aydoğ Ö, Özlü SG, et al. Canakinumab treatment in children with familial Mediterranean fever: report from a single center. Rheumatol Int. 2018;38(5):879–885. doi:10.1007/S00296-018-3993-5.
   PubMed Web of Science ®Google Scholar
• Başaran Ö, Kavuncu S, Güven A, Uncu N, Acar-Çelikel B, Çakar N. Familial Mediterranean fever associated with optic neuritis, successfully treated with anti-interleukin 1 agents. Turk J Pediatr. 2016;58(3):327–330. doi:10.24953/TURKJPED.2016.03.018.
   PubMed Web of Science ®Google Scholar
• Gattorno M, Obici L, Cattalini M, et al. Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study. Ann Rheum Dis. 2017;76(1):173–178. doi:10.1136/ANNRHEUMDIS-2015-209031.
   PubMed Web of Science ®Google Scholar
• Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med. 2006;355(6):581–592. doi:10.1056/NEJMOA055137/SUPPL_FILE/NEJM_GOLDBACH-MANSKY_581SA1.PDF.
   PubMed Web of Science ®Google Scholar
• Hirano M, Seguchi J, Yamamura M, et al. Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study. J Ophthalmic Inflamm Infect. 2015;5(1):1–5. doi:10.1186/S12348-015-0065-9.
   PubMedGoogle Scholar
• Teoh SCB, Sharma S, Hogan A, Lee R, Ramanan AV, Dick AD. Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. Br J Ophthalmol. 2007;91(2):263–264. doi:10.1136/BJO.2006.0101477.
   PubMed Web of Science ®Google Scholar
• Oberg TJ, Vitale AT, Hoffman RO, Bohnsack JF, Warner JE. Cryopyrin-associated periodic syndromes and the eye. Ocul Immunol Inflamm. 2013;21(4):306–309. doi:10.3109/09273948.2013.765016.
   PubMed Web of Science ®Google Scholar
• Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, et al. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum. 2011;63(3):840–849. doi:10.1002/ART.30149.
   PubMed Web of Science ®Google Scholar
• Aróstegui JI, Arnal C, Merino R, et al. NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum. 2007;56(11):3805–3813. doi:10.1002/ART.22966.
   PubMed Web of Science ®Google Scholar
• Simonini G, Xu Z, Caputo R, et al. Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. Arthritis Rheum. 2013;65(2):513–518. doi:10.1002/ART.37776.
   PubMed Web of Science ®Google Scholar
• Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006;24(5 SUPPL. 42). https://www.clinexprheumatol.org/abstract.asp?a=2919.Accessed September 8, 2023.
   PubMed Web of Science ®Google Scholar
• Bilgen SA, Kilic L, Akdogan A, et al. Effects of anti-tumor necrosis factor agents for familial Mediterranean fever patients with chronic arthritis and/or sacroiliitis who were resistant to colchicine treatment. J Clin Rheumatol. 2011;17(7):358–362. doi:10.1097/RHU.0B013E31823682F5.
   PubMed Web of Science ®Google Scholar
• Nedjai B, Quillinan N, Coughlan RJ, et al. Lessons from anti-TNF biologics: infliximab failure in a TRAPS family with the t50M mutation in TNFRSF1A. Adv Exp Med Biol. 2011;691:409–419. doi:10.1007/978-1-4419-6612-4_43/COVER.
   PubMed Web of Science ®Google Scholar
• Davies R, De Cock D, Kearsley-Fleet L, et al. The risk of uveitis in patients with JIA receiving etanercept: the challenges of analysing real-world data. Rheumatology (Oxford). 2020;59(6):1391–1397. doi:10.1093/RHEUMATOLOGY/KEZ449.
   PubMed Web of Science ®Google Scholar
• Taban M, Dupps W, Mandell B, Perez V. Etanercept (enbrel)-associated inflammatory eye disease: case report and review of the literature. Ocul Immunol Inflamm. 2006;14(3):145–150. doi:10.1080/09273940600659393.
   PubMed Web of Science ®Google Scholar
• Durel CA, Aouba A, Bienvenu B, et al. Observational study of a French and Belgian multicenter cohort of 23 patients diagnosed in adulthood with mevalonate kinase deficiency. Medicine. 2016;95(11):e3027. doi:10.1097/MD.0000000000003027.
   PubMed Web of Science ®Google Scholar
• Kraus CL, Culican SM. Nummular keratopathy in a patient with Hyper-IgD Syndrome. Pediatr Rheumatol Online J. 2009;7(1):1–3. doi:10.1186/1546-0096-7-14.
   PubMedGoogle Scholar
• Chen J, Luo Y, Zhao M, et al. Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome. Arthritis Res Ther. 2019;21(1). doi:10.1186/S13075-019-2017-5.
   Web of Science ®Google Scholar
• Rubbert-Roth A, Furst DE, Nebesky JM, Jin A, Berber E. A review of recent advances using tocilizumab in the treatment of rheumatic diseases. Rheumatol Ther. 2018;5(1):21–42. doi:10.1007/S40744-018-0102-X.
   PubMed Web of Science ®Google Scholar
• Zheng J, Huang R, Huang Q, et al. Tocilizumab in the treatment of patients with AA amyloidosis secondary to familial Mediterranean fever. Rheumatology. 2015;54(3):564–565. doi:10.1093/RHEUMATOLOGY/KEU474.
   PubMed Web of Science ®Google Scholar
• La Torre F, Muratore M, Vitale A, Moramarco F, Quarta L, Cantarini L. Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Rheumatol Int. 2015;35(11):1943–1947. doi:10.1007/S00296-015-3305-2.
   PubMed Web of Science ®Google Scholar
• Snegireva LS, Kostik MM, Caroli F, Ceccherini I, Gattorno M, Chasnyk VG. Failure of tocilizumab treatment in a CINCA patient: clinical and pathogenic implications. Rheumatology (Oxford). 2013;52(9):1731–1732. doi:10.1093/RHEUMATOLOGY/KET121.
   PubMed Web of Science ®Google Scholar
• Matsubara T, Hasegawa M, Shiraishi M, et al. A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents. Arthritis Rheum. 2006;54(7):2314–2320. doi:10.1002/ART.21965.
   PubMedGoogle Scholar
• Lu L, Shen M, Jiang D, et al. Blau syndrome with good reponses to Tocilizumab: a case report and focused literature review. Semin Arthritis Rheum. 2018;47(5):727–731. doi:10.1016/J.SEMARTHRIT.2017.09.010.
   PubMed Web of Science ®Google Scholar
• Winthrop KL. The emerging safety profile of JAK inhibitors in rheumatic disease. Nat Rev Rheumatol. 2017;13(4):234–243. doi:10.1038/nrrheum.2017.23.
   PubMed Web of Science ®Google Scholar
• Garcia-Robledo JE, Aragón CC, Nieto-Aristizabal I, Posso-Osorio I, Cañas CA, Tobón GJ. Tofacitinib for familial Mediterranean fever: a new alternative therapy? Rheumatology. 2019;58(3):553–554. doi:10.1093/RHEUMATOLOGY/KEY384.
   PubMed Web of Science ®Google Scholar
• Zhang S, Cai Z, Mo X, Zeng H. Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients. Pediatr Rheumatol Online J. 2021;19(1): doi: 10.1186/S12969-021-00634-X.
   Web of Science ®Google Scholar
• Álvarez-Reguera C, Prieto-Peña D, Herrero-Morant A, et al. Clinical and immunological study of Tofacitinib and Baricitinib in refractory Blau syndrome: case report and literature review. Ther Adv Musculoskelet Dis. 2022;14:1759720X221093211. doi:10.1177/1759720X221093211.
   PubMed Web of Science ®Google Scholar
• Xu Q, Zhang J, Qin T, et al. The role of the inflammasomes in the pathogenesis of uveitis. Exp Eye Res. 2021;208:108618. doi:10.1016/J.EXER.2021.108618.
   PubMed Web of Science ®Google Scholar