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Autosomal recessive familial Mediterranean fever

MedGen UID:
976601
Concept ID:
CN293506
Disease or Syndrome
Synonyms: autosomal recessive familial Mediterranean fever; familial Mediterranean fever; familial MEDITERRANEAN FEVER; familial Mediterranean fever, AR; familial Mediterranean fever, autosomal recessive; FMF; polyserositis, familial paroxysmal; polyserositis, recurrent
 
Monarch Initiative: MONDO:0009572

Definition

Autosomal recessive form of familial Mediterranean fever. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Georgin-Lavialle S, Savey L, Cuisset L, Boursier G, Boffa JJ, Delplanque M, Bourguiba R, Monfort JB, Touitou I, Grateau G; Collaborators, Kone-Paut I, Hentgen V
Rev Med Interne 2023 Nov;44(11):602-616. Epub 2023 Oct 29 doi: 10.1016/j.revmed.2023.10.441. PMID: 37903671
Jarjour RA, Al-Berrawi S
Rheumatol Int 2015 Apr;35(4):629-34. Epub 2014 Aug 24 doi: 10.1007/s00296-014-3116-x. PMID: 25150514
Fonnesu C, Cerquaglia C, Giovinale M, Curigliano V, Verrecchia E, de Socio G, La Regina M, Gasbarrini G, Manna R
Joint Bone Spine 2009 May;76(3):227-33. Epub 2008 Dec 16 doi: 10.1016/j.jbspin.2008.08.004. PMID: 19091621

Recent clinical studies

Etiology

Llobet-Agulló P, Sanromà-Nogués L, Salguero-Pérez IM, Aróstegui JI, Corral-Arboledas S, Coll-Sibina MT, Masiques-Mas L
Allergol Immunopathol (Madr) 2022;50(1):25-30. Epub 2022 Jan 1 doi: 10.15586/aei.v50i1.446. PMID: 34873893
Ozdogan H, Ugurlu S
Presse Med 2019 Feb;48(1 Pt 2):e61-e76. Epub 2019 Jan 25 doi: 10.1016/j.lpm.2018.08.014. PMID: 30686512
Çelikel E, Özçakar ZB, Özdel S, Çakar N, Aydin F, Şahin S, Yalçinkaya F
Mod Rheumatol 2019 Jul;29(4):647-650. Epub 2018 Oct 18 doi: 10.1080/14397595.2018.1500874. PMID: 30009667
Onen F
Rheumatol Int 2006 Apr;26(6):489-96. Epub 2005 Nov 10 doi: 10.1007/s00296-005-0074-3. PMID: 16283319
Bakkaloglu A
Pediatr Nephrol 2003 Sep;18(9):853-9. Epub 2003 Jun 27 doi: 10.1007/s00467-003-1185-2. PMID: 12836090

Diagnosis

Georgin-Lavialle S, Savey L, Cuisset L, Boursier G, Boffa JJ, Delplanque M, Bourguiba R, Monfort JB, Touitou I, Grateau G; Collaborators, Kone-Paut I, Hentgen V
Rev Med Interne 2023 Nov;44(11):602-616. Epub 2023 Oct 29 doi: 10.1016/j.revmed.2023.10.441. PMID: 37903671
Siligato R, Gembillo G, Calabrese V, Conti G, Santoro D
Medicina (Kaunas) 2021 Oct 1;57(10) doi: 10.3390/medicina57101049. PMID: 34684086Free PMC Article
Ozdogan H, Ugurlu S
Presse Med 2019 Feb;48(1 Pt 2):e61-e76. Epub 2019 Jan 25 doi: 10.1016/j.lpm.2018.08.014. PMID: 30686512
Kucuk A, Gezer IA, Ucar R, Karahan AY
Acta Medica (Hradec Kralove) 2014;57(3):97-104. doi: 10.14712/18059694.2014.47. PMID: 25649364
Shohat M, Halpern GJ
Genet Med 2011 Jun;13(6):487-98. doi: 10.1097/GIM.0b013e3182060456. PMID: 21358337

Therapy

Georgin-Lavialle S, Savey L, Cuisset L, Boursier G, Boffa JJ, Delplanque M, Bourguiba R, Monfort JB, Touitou I, Grateau G; Collaborators, Kone-Paut I, Hentgen V
Rev Med Interne 2023 Nov;44(11):602-616. Epub 2023 Oct 29 doi: 10.1016/j.revmed.2023.10.441. PMID: 37903671
Siligato R, Gembillo G, Calabrese V, Conti G, Santoro D
Medicina (Kaunas) 2021 Oct 1;57(10) doi: 10.3390/medicina57101049. PMID: 34684086Free PMC Article
Ozdogan H, Ugurlu S
Presse Med 2019 Feb;48(1 Pt 2):e61-e76. Epub 2019 Jan 25 doi: 10.1016/j.lpm.2018.08.014. PMID: 30686512
Alghamdi M
Clin Rheumatol 2017 Aug;36(8):1707-1713. Epub 2017 Jun 18 doi: 10.1007/s10067-017-3715-5. PMID: 28624931
Kucuk A, Gezer IA, Ucar R, Karahan AY
Acta Medica (Hradec Kralove) 2014;57(3):97-104. doi: 10.14712/18059694.2014.47. PMID: 25649364

Prognosis

Chaaban A, Salman Z, Karam L, Kobeissy PH, Ibrahim JN
Orphanet J Rare Dis 2024 Feb 26;19(1):90. doi: 10.1186/s13023-024-03098-w. PMID: 38409042Free PMC Article
Llobet-Agulló P, Sanromà-Nogués L, Salguero-Pérez IM, Aróstegui JI, Corral-Arboledas S, Coll-Sibina MT, Masiques-Mas L
Allergol Immunopathol (Madr) 2022;50(1):25-30. Epub 2022 Jan 1 doi: 10.15586/aei.v50i1.446. PMID: 34873893
Siligato R, Gembillo G, Calabrese V, Conti G, Santoro D
Medicina (Kaunas) 2021 Oct 1;57(10) doi: 10.3390/medicina57101049. PMID: 34684086Free PMC Article
Kucuk A, Gezer IA, Ucar R, Karahan AY
Acta Medica (Hradec Kralove) 2014;57(3):97-104. doi: 10.14712/18059694.2014.47. PMID: 25649364
Portincasa P, Scaccianoce G, Palasciano G
Eur J Clin Invest 2013 Dec;43(12):1314-27. Epub 2013 Oct 14 doi: 10.1111/eci.12170. PMID: 24117178

Clinical prediction guides

Chaaban A, Salman Z, Karam L, Kobeissy PH, Ibrahim JN
Orphanet J Rare Dis 2024 Feb 26;19(1):90. doi: 10.1186/s13023-024-03098-w. PMID: 38409042Free PMC Article
Sunar-Yayla EN, Şenol PE, Yıldırım DG, Söylemezoğlu O
Turk J Pediatr 2023;65(6):973-979. doi: 10.24953/turkjped.2023.227. PMID: 38204312
Siligato R, Gembillo G, Calabrese V, Conti G, Santoro D
Medicina (Kaunas) 2021 Oct 1;57(10) doi: 10.3390/medicina57101049. PMID: 34684086Free PMC Article
Hotta Y, Kawasaki T, Kotani T, Okada H, Ikeda K, Yamane S, Yamada N, Sekoguchi S, Isozaki Y, Nagao Y, Murotani M, Oyamada H
Intern Med 2020 May 15;59(10):1267-1270. Epub 2020 Feb 12 doi: 10.2169/internalmedicine.3175-19. PMID: 32051376Free PMC Article
Soriano A, Manna R
Autoimmun Rev 2012 Nov;12(1):31-7. Epub 2012 Aug 2 doi: 10.1016/j.autrev.2012.07.019. PMID: 22878273

Recent systematic reviews

Gangemi S, Manti S, Procopio V, Casciaro M, Di Salvo E, Cutrupi M, Ganci G, Salpietro C, Chimenz R, Cuppari C
Clin Genet 2018 Jul;94(1):81-94. Epub 2018 Mar 9 doi: 10.1111/cge.13223. PMID: 29393966

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