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Autoinflammatory disorder

MedGen UID:
854258
•Concept ID:
C3860213
•
Disease or Syndrome

Professional guidelines

PubMed

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, Artan S, Cora T, Sahin FI, Dursun A, Sezer O, Gurkan H, Erdogan M, Gunduz CNS, Bisgin A, Ozdemir O, Ulgenalp A, Percin EF, Yildirim ME, Tekes S, Bagis H, Yuce H, Duman N, Bozkurt G, Yararbas K, Yildirim MS, Arman A, Mihci E, Eraslan S, Altintas ZM, Aymelek HS, Ruhi HI, Tatar A, Ergoren MC, Cetin GO, Altunoglu U, Caglayan AO, Yuksel B, Ozkul Y, Saatci C, Kenanoglu S, Karasu N, Dundar B, Ozcelik F, Demir M, Siniksaran BS, Kulak H, Kiranatlioglu K, Baysal K, Kazimli U, Akalin H, Dundar A, Boz M, Bayram A, Subasioglu A, Colak FK, Karaduman N, Gunes MC, Kandemir N, Aynekin B, Emekli R, Sahin IO, Ozdemir SY, Onal MG, Senel AS, Poyrazoglu MH, Kisaarslan ANP, Gursoy S, Baskol M, Calis M, Demir H, Zararsiz GE, Erdogan MO, Elmas M, Solak M, Ulu MS, Thahir A, Aydin Z, Atasever U, Sag SO, Aliyeva L, Alemdar A, Dogan B, Erguzeloglu CO, Kaya N, Ozkinay F, Cogulu O, Durmaz A, Onay H, Karaca E, Durmaz B, Aykut A, Cilingir O, Aras BD, Gokalp EE, Arslan S, Temena A, Haziyeva K, Kocagil S, Bas H, Susam E, Keklikci AR, Sarac E, Kocak N, Nergiz S, Terzi YK, Dincer SA, Baskin ES, Genc GC, Bahadir O, Sanri A, Yigit S, Tozkir H, Yalcintepe S, Ozkayin N, Kiraz A, Balta B, Gonen GA, Kurt EE, Ceylan GG, Ceylan AC, Erten S, Bozdogan ST, Boga I, Yilmaz M, Silan F, Kocabey M, Koc A, Cankaya T, Bora E, Bozkaya OG, Ercal D, Ergun MA, Ergun SG, Duman YS, Beyazit SB, Uzel VH, Em S, Cevik MO, Eroz R, Demirtas M, Firat CK, Kabayegit ZM, Altan M, Mardan L, Sayar C, Tumer S, Turkgenc B, Karakoyun HK, Tunc B, Kuru S, Zamani A, Geckinli BB, Ates EA, Clark OA, Toylu A, Coskun M, Nur B, Bilge I, Bayramicli OU, Emmungil H, Komesli Z, Zeybel M, Gurakan F, Tasdemir M, Kebudi R, Karabulut HG, Tuncali T, Kutlay NY, Kahraman CY, Onder NB, Beyitler I, Kavukcu S, Tulay P, Tosun O, Tuncel G, Mocan G, Kale H, Uyguner ZO, Acar A, Altinay M, Erdem L; National Genetics Consortium Study
Funct Integr Genomics 2022 Jun;22(3):291-315. Epub 2022 Jan 31 doi: 10.1007/s10142-021-00819-3. PMID: 35098403
Canakinumab for the treatment of adult-onset Still's disease.
Sfriso P, Bindoli S, Doria A, Feist E, Galozzi P
Expert Rev Clin Immunol 2020 Feb;16(2):129-138. Epub 2020 Jan 18 doi: 10.1080/1744666X.2019.1707664. PMID: 31957508
Systemic Juvenile Idiopathic Arthritis: Diagnosis and Management.
Kumar S
Indian J Pediatr 2016 Apr;83(4):322-7. Epub 2016 Feb 26 doi: 10.1007/s12098-016-2060-z. PMID: 26916892

Recent clinical studies

Etiology

A Cohort Study on Deficiency of ADA2 from China.
Li GM, Han X, Wu Y, Wang W, Tang HX, Lu MP, Tang XM, Lin Y, Deng F, Yang J, Wang XN, Liu CC, Zheng WJ, Wu BB, Zhou F, Luo H, Zhang L, Liu HM, Guan WZ, Wang SH, Tao PF, Jin TJ, Fang R, Wu Y, Zhang J, Zhang Y, Zhang TN, Yin W, Guo L, Tang WJ, Chang H, Zhang QY, Li XZ, Li JG, Zhou ZX, Yang SR, Yang KK, Xu H, Song HM, Deuitch NT, Lee PY, Zhou Q, Sun L
J Clin Immunol 2023 May;43(4):835-845. Epub 2023 Feb 18 doi: 10.1007/s10875-023-01432-8. PMID: 36807221Free PMC Article
Chronic recurrent multifocal osteomyelitis. A narrative and pictorial review.
Sergi CM, Miller E, Demellawy DE, Shen F, Zhang M
Front Immunol 2022;13:959575. Epub 2022 Aug 22 doi: 10.3389/fimmu.2022.959575. PMID: 36072576Free PMC Article
The Clinical Chameleon of Autoinflammatory Diseases in Children.
Sangiorgi E, Rigante D
Cells 2022 Jul 18;11(14) doi: 10.3390/cells11142231. PMID: 35883675Free PMC Article
Pathogenic implications, incidence, and outcomes of COVID-19 in autoimmune inflammatory joint diseases and autoinflammatory disorders.
Ruscitti P, Conforti A, Cipriani P, Giacomelli R, Tasso M, Costa L, Caso F
Adv Rheumatol 2021 Jul 8;61(1):45. doi: 10.1186/s42358-021-00204-5. PMID: 34238376Free PMC Article
Behçet's disease as an autoinflammatory disorder.
Gül A
Curr Drug Targets Inflamm Allergy 2005 Feb;4(1):81-3. doi: 10.2174/1568010053622894. PMID: 15720240

Diagnosis

An update on VEXAS syndrome.
Al-Hakim A, Savic S
Expert Rev Clin Immunol 2023 Feb;19(2):203-215. Epub 2022 Dec 26 doi: 10.1080/1744666X.2023.2157262. PMID: 36537591
Chronic recurrent multifocal osteomyelitis. A narrative and pictorial review.
Sergi CM, Miller E, Demellawy DE, Shen F, Zhang M
Front Immunol 2022;13:959575. Epub 2022 Aug 22 doi: 10.3389/fimmu.2022.959575. PMID: 36072576Free PMC Article
The Clinical Chameleon of Autoinflammatory Diseases in Children.
Sangiorgi E, Rigante D
Cells 2022 Jul 18;11(14) doi: 10.3390/cells11142231. PMID: 35883675Free PMC Article
Pyoderma gangrenosum.
Maverakis E, Marzano AV, Le ST, Callen JP, Brüggen MC, Guenova E, Dissemond J, Shinkai K, Langan SM
Nat Rev Dis Primers 2020 Oct 8;6(1):81. doi: 10.1038/s41572-020-0213-x. PMID: 33033263
Adult-onset Still's disease.
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

Therapy

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
Moltrasio C, Romagnuolo M, Marzano AV
Front Immunol 2022;13:1007705. Epub 2022 Oct 6 doi: 10.3389/fimmu.2022.1007705. PMID: 36275641Free PMC Article
Tumor necrosis factor-associated periodic syndrome in adults.
Menon SG, Efthimiou P
Rheumatol Int 2018 Jan;38(1):3-11. Epub 2017 Sep 23 doi: 10.1007/s00296-017-3820-4. PMID: 28942479
Canakinumab for the treatment of TNF-receptor associated periodic syndrome.
La Torre F, Caparello MC, Cimaz R
Expert Rev Clin Immunol 2017 Jun;13(6):513-523. doi: 10.1080/1744666X.2017.1324783. PMID: 28454496
Systemic Juvenile Idiopathic Arthritis: Diagnosis and Management.
Kumar S
Indian J Pediatr 2016 Apr;83(4):322-7. Epub 2016 Feb 26 doi: 10.1007/s12098-016-2060-z. PMID: 26916892
ICON: the early diagnosis of congenital immunodeficiencies.
Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T
J Clin Immunol 2014 May;34(4):398-424. Epub 2014 Mar 12 doi: 10.1007/s10875-014-0003-x. PMID: 24619621

Prognosis

An update on VEXAS syndrome.
Al-Hakim A, Savic S
Expert Rev Clin Immunol 2023 Feb;19(2):203-215. Epub 2022 Dec 26 doi: 10.1080/1744666X.2023.2157262. PMID: 36537591
Ocular manifestations of Blau syndrome.
Suresh S, Tsui E
Curr Opin Ophthalmol 2020 Nov;31(6):532-537. doi: 10.1097/ICU.0000000000000705. PMID: 33009086
Adult-onset Still's disease as a cutaneous marker of systemic disease.
Damevska K, França K, Nikolovska S, Gucev F
Clin Dermatol 2019 Nov-Dec;37(6):668-674. Epub 2019 Aug 1 doi: 10.1016/j.clindermatol.2019.07.034. PMID: 31864446
Tumor necrosis factor-associated periodic syndrome in adults.
Menon SG, Efthimiou P
Rheumatol Int 2018 Jan;38(1):3-11. Epub 2017 Sep 23 doi: 10.1007/s00296-017-3820-4. PMID: 28942479
Adult-onset Still's disease.
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

Multiple Cytokine Analysis of Th1/Th2/Th9/Th17/Th22/Treg Cytokine Pathway for Individual Immune Profile Assessment in Patients with Psoriasis.
Michalak-Stoma A, Bartosińska J, Raczkiewicz D, Kowal M, Kozak J, Gujski M, Krasowska D, Chodorowska G
Med Sci Monit 2022 Nov 24;28:e938277. doi: 10.12659/MSM.938277. PMID: 36419330Free PMC Article
Pathogenic implications, incidence, and outcomes of COVID-19 in autoimmune inflammatory joint diseases and autoinflammatory disorders.
Ruscitti P, Conforti A, Cipriani P, Giacomelli R, Tasso M, Costa L, Caso F
Adv Rheumatol 2021 Jul 8;61(1):45. doi: 10.1186/s42358-021-00204-5. PMID: 34238376Free PMC Article
Adult-onset Still's disease as a cutaneous marker of systemic disease.
Damevska K, França K, Nikolovska S, Gucev F
Clin Dermatol 2019 Nov-Dec;37(6):668-674. Epub 2019 Aug 1 doi: 10.1016/j.clindermatol.2019.07.034. PMID: 31864446
Canakinumab for the treatment of hyperimmunoglobulin D syndrome.
Sánchez-Manubens J, Iglesias E, Anton J
Expert Rev Clin Immunol 2019 Mar;15(3):215-220. Epub 2019 Jan 26 doi: 10.1080/1744666X.2019.1571410. PMID: 30652926
Lung Involvement in Children with Hereditary Autoinflammatory Disorders.
Tarantino G, Esposito S, Andreozzi L, Bracci B, D'Errico F, Rigante D
Int J Mol Sci 2016 Dec 15;17(12) doi: 10.3390/ijms17122111. PMID: 27983684Free PMC Article

Recent systematic reviews

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Silva NM, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S
Rheumatology (Oxford) 2021 Dec 1;60(12):5775-5784. doi: 10.1093/rheumatology/keab252. PMID: 33715002
Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review.
Elhani I, Dumont A, Vergneault H, Ardois S, Le Besnerais M, Levesque H, Ouallet JC, Savey L, Aouba A, Amselem S, Giurgea I, Capron J, Grateau G, Georgin-Lavialle S
Mult Scler Relat Disord 2021 May;50:102834. Epub 2021 Feb 10 doi: 10.1016/j.msard.2021.102834. PMID: 33609923
Phenotypes and Pathophysiology of Syndromic Hidradenitis Suppurativa: Different Faces of the Same Disease? A Systematic Review.
Nikolakis G, Kaleta KP, Vaiopoulos AG, Wolter K, Baroud S, Wojas-Pelc A, Zouboulis CC
Dermatology 2021;237(5):673-697. Epub 2020 Sep 17 doi: 10.1159/000509873. PMID: 32942279
Efficacy and safety of canakinumab treatment in schnitzler syndrome: A systematic literature review.
Betrains A, Staels F, Vanderschueren S
Semin Arthritis Rheum 2020 Aug;50(4):636-642. Epub 2020 May 25 doi: 10.1016/j.semarthrit.2020.05.002. PMID: 32502728

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