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Autoinflammatory syndrome

MedGen UID:
855741
Concept ID:
C3890737
Disease or Syndrome
Synonym: Autoinflammatory disease
SNOMED CT: Autoinflammatory syndrome (42111000175103); Autoinflammatory disease (42111000175103)
 
Monarch Initiative: MONDO:0019751
Orphanet: ORPHA93665

Definition

A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. [from NCI]

Professional guidelines

PubMed

Mertz P, Costedoat-Chalumeau N, Ferrada MA, Moulis G, Mekinian A, Grayson PC, Arnaud L
Nat Rev Rheumatol 2024 Jun;20(6):347-360. Epub 2024 May 2 doi: 10.1038/s41584-024-01113-9. PMID: 38698240
Loeza-Uribe MP, Hinojosa-Azaola A, Sánchez-Hernández BE, Crispín JC, Apodaca-Chávez E, Ferrada MA, Martín-Nares E
Reumatol Clin (Engl Ed) 2024 Jan;20(1):47-56. Epub 2023 Dec 29 doi: 10.1016/j.reumae.2023.12.004. PMID: 38160120
Diaz VL, Gribbons KB, Yazdi-Nejad K, Kuemmerle-Deschner J, Wanderer AA, Broderick L, Hoffman HM
J Allergy Clin Immunol Pract 2023 Aug;11(8):2275-2285. Epub 2023 Jun 7 doi: 10.1016/j.jaip.2023.05.040. PMID: 37290539

Recent clinical studies

Therapy

Cohen Tervaert JW, Martinez-Lavin M, Jara LJ, Halpert G, Watad A, Amital H, Shoenfeld Y
Autoimmun Rev 2023 May;22(5):103287. Epub 2023 Feb 3 doi: 10.1016/j.autrev.2023.103287. PMID: 36738954
Cohen Tervaert JW, Mohazab N, Redmond D, van Eeden C, Osman M
Expert Rev Clin Immunol 2022 Jan;18(1):15-29. Epub 2022 Jan 5 doi: 10.1080/1744666X.2022.2010546. PMID: 34882509
Maltseva N, Borzova E, Fomina D, Bizjak M, Terhorst-Molawi D, Košnik M, Kulthanan K, Meshkova R, Thomsen SF, Maurer M; COLD-CE Steering Committee
Allergy 2021 Apr;76(4):1077-1094. Epub 2020 Dec 24 doi: 10.1111/all.14674. PMID: 33249577
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R
J Clin Invest 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. PMID: 31874111Free PMC Article
Toussirot É, Bereau M
Inflamm Allergy Drug Targets 2015;14(2):94-8. doi: 10.2174/1871528114666160105113046. PMID: 26728772

Prognosis

Loeza-Uribe MP, Hinojosa-Azaola A, Sánchez-Hernández BE, Crispín JC, Apodaca-Chávez E, Ferrada MA, Martín-Nares E
Reumatol Clin (Engl Ed) 2024 Jan;20(1):47-56. Epub 2023 Dec 29 doi: 10.1016/j.reumae.2023.12.004. PMID: 38160120
Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, Lacombe V, Terriou L, Ardois S, Bouaziz JD, Mathian A, Le Guenno G, Aouba A, Outh R, Meyer A, Roux-Sauvat M, Ebbo M, Zhao LP, Bigot A, Jamilloux Y, Guillotin V, Flamarion E, Henneton P, Vial G, Jachiet V, Rossignol J, Vinzio S, Weitten T, Vinit J, Deligny C, Humbert S, Samson M, Magy-Bertrand N, Moulinet T, Bourguiba R, Hanslik T, Bachmeyer C, Sebert M, Kostine M, Bienvenu B, Biscay P, Liozon E, Sailler L, Chasset F, Audemard-Verger A, Duroyon E, Sarrabay G, Borlot F, Dieval C, Cluzeau T, Marianetti P, Lobbes H, Boursier G, Gerfaud-Valentin M, Jeannel J, Servettaz A, Audia S, Larue M, Henriot B, Faucher B, Graveleau J, de Sainte Marie B, Galland J, Bouillet L, Arnaud C, Ades L, Carrat F, Hirsch P, Fenaux P, Fain O, Sujobert P, Kosmider O, Mekinian A; French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON
Br J Dermatol 2022 Mar;186(3):564-574. Epub 2021 Nov 28 doi: 10.1111/bjd.20805. PMID: 34632574
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852
Gusdorf L, Lipsker D
Curr Rheumatol Rep 2017 Aug;19(8):46. doi: 10.1007/s11926-017-0673-5. PMID: 28718061
Gerfaud-Valentin M, Jamilloux Y, Iwaz J, Sève P
Autoimmun Rev 2014 Jul;13(7):708-22. Epub 2014 Mar 19 doi: 10.1016/j.autrev.2014.01.058. PMID: 24657513

Clinical prediction guides

Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun JM, Laohamonthonkul P, Cerra A, Kratina T; CIRCA; AADRY, Li MWY, Russell C, van Beek A, Kirk EP, Walsh R, Alqanatish J, Almojali A, Alsuwairi W, Alrasheed A, Lalaoui N, Gray PE, Komander D, Masters SL
J Exp Med 2024 Jun 3;221(6) Epub 2024 Apr 17 doi: 10.1084/jem.20222171. PMID: 38630025Free PMC Article
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA
Front Immunol 2023;14:1231749. Epub 2023 Sep 6 doi: 10.3389/fimmu.2023.1231749. PMID: 37744344Free PMC Article
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E
Front Immunol 2023;14:1190104. Epub 2023 Aug 4 doi: 10.3389/fimmu.2023.1190104. PMID: 37600812Free PMC Article
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R
J Clin Invest 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. PMID: 31874111Free PMC Article
Toussirot É, Bereau M
Inflamm Allergy Drug Targets 2015;14(2):94-8. doi: 10.2174/1871528114666160105113046. PMID: 26728772

Recent systematic reviews

Kouranloo K, Ashley A, Zhao SS, Dey M
Rheumatol Int 2023 Jun;43(6):1023-1032. Epub 2023 Jan 8 doi: 10.1007/s00296-022-05266-2. PMID: 36617363Free PMC Article
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R
Arthritis Rheumatol 2022 May;74(5):735-751. Epub 2022 Mar 21 doi: 10.1002/art.42087. PMID: 35315249
Rodrigues F, Cuisset L, Cador-Rousseau B, Giurgea I, Neven B, Buob D, Quartier P, Hachulla E, Lequerré T, Cam G, Boursier G, Hervieu V, Grateau G, Georgin-Lavialle S
Rheumatology (Oxford) 2022 Nov 28;61(12):4827-4834. doi: 10.1093/rheumatology/keac145. PMID: 35262642
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R
Ann Rheum Dis 2022 May;81(5):601-613. Epub 2022 Jan 27 doi: 10.1136/annrheumdis-2021-221814. PMID: 35086813Free PMC Article
Abbara S, Grateau G, Ducharme-Bénard S, Saadoun D, Georgin-Lavialle S
Front Immunol 2019;10:763. Epub 2019 Apr 12 doi: 10.3389/fimmu.2019.00763. PMID: 31031761Free PMC Article

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