Pediatric Systemic Autoinflammatory Disorders: An Overview

An J, Marwaha A, Laxer RM. Autoinflammatory diseases: a review. J Rheumatol. 2024;51(9):848–61. https://doi.org/10.3899/jrheum.2023-1209.

Article  PubMed  Google Scholar 

Yıldız M, Haşlak F, Adrovic A, Barut K, Kasapçopur Ö. Autoinflammatory diseases in childhood. Balkan Med J. 2020;37(5):236–46. https://doi.org/10.4274/balkanmedj.galenos.2020.2020.4.82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31. https://doi.org/10.1038/ng0997-25.

Article  Google Scholar 

Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N, Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Ann Rheum Dis. 2018;77(11):1558–65. https://doi.org/10.1136/annrheumdis-2017-212515.

Article  CAS  PubMed  Google Scholar 

McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O’Shea JJ, Kastner DL. 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):133–44. https://doi.org/10.1016/s0092-8674(00)80721-7.

Article  CAS  PubMed  Google Scholar 

Piller S, Herzog D. The burden of visits for fever at a paediatric emergency room: a retrospective study on patients presenting at the cantons hospital of fribourg, a peripheral public hospital Of Switzerland. Pediatric Health Med Ther. 2019;15(10):147–52. https://doi.org/10.2147/PHMT.S219759.

Article  Google Scholar 

Evans SS, Repasky EA, Fisher DT. Fever and the thermal regulation of immunity: the immune system feels the heat. Nat Rev Immunol. 2015;15(6):335–49. https://doi.org/10.1038/nri3843.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gusev E, Zhuravleva Y. Inflammation: a new look at an old problem. Int J Mol Sci. 2022;23(9):4596. https://doi.org/10.3390/ijms23094596.

Article  CAS  PubMed  PubMed Central  Google Scholar 

La Bella S, Di Ludovico A, Di Donato G, Basaran O, Ozen S, Gattorno M, Chiarelli F, Breda L. The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases. Front Immunol. 2024;5(14):1341680. https://doi.org/10.3389/fimmu.2023.1341680.

Article  CAS  Google Scholar 

Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell. 2002;10(2):417–26. https://doi.org/10.1016/s1097-2765(02)00599-3.

Article  CAS  PubMed  Google Scholar 

Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017;18(8):832–42. https://doi.org/10.1038/ni.3777. (Erratum in: Nat Immunol. 2017 Oct 18;18(11):1271. 10.1038/ni1117-1271a).

Article  CAS  PubMed  Google Scholar 

Bernard EM, Broz P. Activation and manipulation of inflammasomes and pyroptosis during bacterial infections. Biochem J. 2022;479(7):867–82. https://doi.org/10.1042/BCJ20220051.

Article  CAS  PubMed  Google Scholar 

Landy E, Carol H, Ring A, et al. Biological and clinical roles of IL-18 in inflammatory diseases. Nat Rev Rheumatol. 2024;20:33–47.

Article  CAS  PubMed  Google Scholar 

Marshall GS, Edwards KM, Lawton AR. PFAPA syndrome. Pediatr Infect Dis J. 1989;8(9):658–9. https://doi.org/10.1097/00006454-198909000-00026.

Article  CAS  PubMed  Google Scholar 

Batu ED. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: main features and an algorithm for clinical practice. Rheumatol Int. 2019;39(6):957–70. https://doi.org/10.1007/s00296-019-04257-0.

Article  CAS  PubMed  Google Scholar 

Thomas KT, Feder HM Jr, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135(1):15–21.

Article  CAS  PubMed  Google Scholar 

Amarilyo G, Rothman D, Manthiram K, Edwards KM, Li SC, Marshall GS, Yildirim-Toruner C, Haines K, Ferguson PJ, Lionetti G, Cherian J, Zhao Y, DeLaMora P, Syverson G, Nativ S, Twilt M, Michelow IC, Stepanovskiy Y, Thatayatikom A, Harel L, Akoghlanian S, Tucker L, Marques MC, Srinivasalu H, Propst EJ, Licameli GR, Dedeoglu F, Lapidus S; CARRA PFAPA Consensus Treatment Plan Workgroup. Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the childhood arthritis and rheumatology research alliance (CARRA) PFAPA work group. Pediatr Rheumatol Online J. 2020s;18(1):31. https://doi.org/10.1186/s12969-020-00424-x

Licameli G, Lawton M, Kenna M, Dedeoglu F. Long-term surgical outcomes of adenotonsillectomy for PFAPA syndrome. Arch Otolaryngol Head Neck Surg. 2012;138(10):902–6. https://doi.org/10.1001/2013.jamaoto.313.

Article  PubMed  Google Scholar 

Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, Ozdogan H, Abu I, Gattorno M, Hawkins PN, Yuce S, Kallinich T, Bilginer Y, Kastner D, Carmona L. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644–51. https://doi.org/10.1136/annrheumdis-2015-208690.

Article  CAS  PubMed  Google Scholar 

Schutt C, Siegel DM. Autoinflammatory Diseases/Periodic Fevers. Pediatr Rev. 2023;44(9):481–90. https://doi.org/10.1542/pir.2022-005635.

Article  PubMed  Google Scholar 

Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl J Med. 1972;287(25):1302. https://doi.org/10.1056/NEJM197212212872514.

Article  CAS  PubMed  Google Scholar 

Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U, Schaefer C, Stojanov S, Timmann C, Keitzer R, Ozdogan H, Ozen S. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics. 2007;119(2):e474–83. https://doi.org/10.1542/peds.2006-1434.

Article  PubMed  Google Scholar 

Goldstein RC, Schwabe AD. Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study. Ann Intern Med. 1974;81(6):792–4. https://doi.org/10.7326/0003-4819-81-6-792.

Article  CAS  PubMed  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):914–21. https://doi.org/10.1038/ni.3457.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Booshehri LM, Hoffman HM. CAPS and NLRP3. J Clin Immunol. 2019;39(3):277–86. https://doi.org/10.1007/s10875-019-00638-z.

Article  PubMed  PubMed Central  Google Scholar 

Cantarini L, Lucherini OM, Frediani B, Brizi MG, Bartolomei B, Cimaz R, Galeazzi M, Rigante D. Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. Int J Immunopathol Pharmacol. 2011;24(4):827–36. https://doi.org/10.1177/039463201102400402.

Article  CAS  PubMed  Google Scholar 

Kilic H, Sahin S, Duman C, Adrovic A, Barut K, Turanli ET, Yildirim SR, Kizilkilic O, Kasapcopur O, Saltik S. Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. Eur J Paediatr Neurol. 2019;23(3):466–72. https://doi.org/10.1016/j.ejpn.2019.03.006.

Article  PubMed  Google Scholar 

Hetrick R, Oliver M. Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity. Front Pediatr. 2023;5(11):1169659. https://doi.org/10.3389/fped.2023.1169659.

Article  Google Scholar 

Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ. Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis. 2013;72(3):410–3. https://doi.org/10.1136/annrheumdis-2012-201818.

Article  CAS  PubMed 

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