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Autoinflammatory syndrome with skin involvement

MedGen UID:
1842398
Concept ID:
C5681002
Disease or Syndrome
Orphanet: ORPHA290842

Professional guidelines

PubMed

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
Mertz P, Sparks J, Kobrin D, Ogbonnaya SA, Sevim E, Michet C, Arnaud L, Ferrada M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101867. Epub 2023 Oct 14 doi: 10.1016/j.berh.2023.101867. PMID: 37839908
van der Houwen TB, van Hagen PM, van Laar JAM
Semin Arthritis Rheum 2022 Feb;52:151956. Epub 2022 Jan 10 doi: 10.1016/j.semarthrit.2022.151956. PMID: 35038644

Recent clinical studies

Etiology

Mertz P, Sparks J, Kobrin D, Ogbonnaya SA, Sevim E, Michet C, Arnaud L, Ferrada M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101867. Epub 2023 Oct 14 doi: 10.1016/j.berh.2023.101867. PMID: 37839908
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
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
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Meier-Schiesser B, French LE
J Dtsch Dermatol Ges 2021 Mar;19(3):400-426. Epub 2021 Feb 23 doi: 10.1111/ddg.14332. PMID: 33620111

Diagnosis

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
Sterling D, Duncan ME, Philippidou M, Salisbury JR, Kulasekararaj AG, Basu TN
J Am Acad Dermatol 2023 Dec;89(6):1209-1214. Epub 2022 Feb 2 doi: 10.1016/j.jaad.2022.01.042. PMID: 35121074
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
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
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

Therapy

Casal Moura M, Baqir M, Tandon YK, Samec MJ, Hines AS, Reichard KK, Mangaonkar AA, Go RS, Warrington KJ, Patnaik MM, Koster MJ, Ryu JH
Respir Med 2023 Jul;213:107245. Epub 2023 Apr 14 doi: 10.1016/j.rmed.2023.107245. PMID: 37062498
van der Houwen TB, van Hagen PM, van Laar JAM
Semin Arthritis Rheum 2022 Feb;52:151956. Epub 2022 Jan 10 doi: 10.1016/j.semarthrit.2022.151956. PMID: 35038644
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
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
Ksiaa I, Abroug N, Kechida M, Zina S, Jelliti B, Khochtali S, Attia S, Khairallah M
J Fr Ophtalmol 2019 Apr;42(4):e133-e146. Epub 2019 Mar 5 doi: 10.1016/j.jfo.2019.02.002. PMID: 30850197

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
Mertz P, Sparks J, Kobrin D, Ogbonnaya SA, Sevim E, Michet C, Arnaud L, Ferrada M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101867. Epub 2023 Oct 14 doi: 10.1016/j.berh.2023.101867. PMID: 37839908
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
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article

Clinical prediction guides

Miyamoto T, Honda Y, Izawa K, Kanazawa N, Kadowaki S, Ohnishi H, Fujimoto M, Kambe N, Kase N, Shiba T, Nakagishi Y, Akizuki S, Murakami K, Bamba M, Nishida Y, Inui A, Fujisawa T, Nishida D, Iwata N, Otsubo Y, Ishimori S, Nishikori M, Tanizawa K, Nakamura T, Ueda T, Ohwada Y, Tsuyusaki Y, Shimizu M, Ebato T, Iwao K, Kubo A, Kawai T, Matsubayashi T, Miyazaki T, Kanayama T, Nishitani-Isa M, Nihira H, Abe J, Tanaka T, Hiejima E, Okada S, Ohara O, Saito MK, Takita J, Nishikomori R, Yasumi T
Front Immunol 2022;13:905960. Epub 2022 Sep 23 doi: 10.3389/fimmu.2022.905960. PMID: 36211342Free PMC Article
Almughrbi AH, Crovella S
Exp Dermatol 2022 Sep;31 Suppl 1:9-16. doi: 10.1111/exd.14581. PMID: 35451529
Cinicola BL, Corrente S, Castagnoli R, Lougaris V, Giardino G, Leonardi L, Volpi S, La Torre F, Federici S, Soresina A, Cancrini C, Marseglia GL, Cardinale F; Immunology Task Force of the Italian Society of Pediatric Allergy, Immunology (SIAIP)
Pediatr Allergy Immunol 2022 Jan;33 Suppl 27(Suppl 27):65-68. doi: 10.1111/pai.13633. PMID: 35080318Free PMC Article
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748Free PMC Article

Recent systematic reviews

Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, Dupin N, Franck N, Cohen P, Bessis D, Guenno GL, Koné-Paut I, Belot A, Bonhomme A, Ducharme-Bénard S, Grateau G, Sarrabay G, Touitou I, Boursier G, Georgin-Lavialle S
Semin Arthritis Rheum 2021 Dec;51(6):1170-1179. Epub 2021 Sep 16 doi: 10.1016/j.semarthrit.2021.09.001. PMID: 34571400
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
Vossen ARJV, van der Zee HH, Prens EP
Front Immunol 2018;9:2965. Epub 2018 Dec 14 doi: 10.3389/fimmu.2018.02965. PMID: 30619323Free PMC Article
Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C
Autoimmun Rev 2018 Aug;17(8):809-815. Epub 2018 Jun 8 doi: 10.1016/j.autrev.2018.02.012. PMID: 29890348
Yao Q, Englund KA, Hayden SP, Tomecki KJ
Semin Arthritis Rheum 2012 Feb;41(4):611-7. Epub 2011 Sep 25 doi: 10.1016/j.semarthrit.2011.07.008. PMID: 21943788

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