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Year Number of Results
1992 1
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2000 4
2001 2
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2004 3
2006 3
2007 2
2008 5
2009 5
2010 5
2011 13
2012 11
2013 10
2014 5
2015 11
2016 10
2017 10
2018 10
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2020 13
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139 results

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Page 1
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) …
BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean feve …
Periodic fever syndromes.
Lachmann HJ. Lachmann HJ. Best Pract Res Clin Rheumatol. 2017 Aug;31(4):596-609. doi: 10.1016/j.berh.2017.12.001. Epub 2018 Jan 11. Best Pract Res Clin Rheumatol. 2017. PMID: 29773275 Review.
Mevalonate pathway: a review of clinical and therapeutical implications.
Buhaescu I, Izzedine H. Buhaescu I, et al. Clin Biochem. 2007 Jun;40(9-10):575-84. doi: 10.1016/j.clinbiochem.2007.03.016. Epub 2007 Mar 31. Clin Biochem. 2007. PMID: 17467679 Review.
Mevalonate pathway is an important metabolic pathway which plays a key role in multiple cellular processes by synthesizing sterol isoprenoids, such as cholesterol, and non-sterol isoprenoids, such as dolichol, heme-A, isopentenyl tRNA and ubiquinone. ...Also, considerable
Mevalonate pathway is an important metabolic pathway which plays a key role in multiple cellular processes by synthesizing sterol iso
Autoinflammatory Diseases/Periodic Fevers.
Schutt C, Siegel DM. Schutt C, et al. Pediatr Rev. 2023 Sep 1;44(9):481-490. doi: 10.1542/pir.2022-005635. Pediatr Rev. 2023. PMID: 37653132 Review.
This review discusses the current conceptualization of autoinflammatory diseases with specific focus and detail on familial Mediterranean fever; tumor necrosis factor receptor-associated periodic syndrome; mevalonate kinase deficiency; NLRP3-associated autoin …
This review discusses the current conceptualization of autoinflammatory diseases with specific focus and detail on familial Mediterranean fe …
Autoinflammatory diseases: State of the art.
Georgin-Lavialle S, Fayand A, Rodrigues F, Bachmeyer C, Savey L, Grateau G. Georgin-Lavialle S, et al. Presse Med. 2019 Feb;48(1 Pt 2):e25-e48. doi: 10.1016/j.lpm.2018.12.003. Epub 2019 Jan 24. Presse Med. 2019. PMID: 30686513 Review.
The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndr …
The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinf …
Systemic autoinflammatory diseases: Clinical state of the art.
Georgin-Lavialle S, Ducharme-Benard S, Sarrabay G, Savey L, Grateau G, Hentgen V. Georgin-Lavialle S, et al. Best Pract Res Clin Rheumatol. 2020 Aug;34(4):101529. doi: 10.1016/j.berh.2020.101529. Epub 2020 Jun 13. Best Pract Res Clin Rheumatol. 2020. PMID: 32546426 Free article. Review.
The four historical monogenic diseases are familial Mediterranean fever (associated with MEFV mutations), cryopyrinopathies (NLRP3 mutations), tumor necrosis factor receptor-associated periodic syndrome (TNFRSF1A mutations), and mevalonate kinase deficiency ( …
The four historical monogenic diseases are familial Mediterranean fever (associated with MEFV mutations), cryopyrinopathies (NLRP3 mutations …
Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide.
Soriano A, Soriano M, Espinosa G, Manna R, Emmi G, Cantarini L, Hernández-Rodríguez J. Soriano A, et al. Front Immunol. 2020 Jun 3;11:865. doi: 10.3389/fimmu.2020.00865. eCollection 2020. Front Immunol. 2020. PMID: 32655539 Free PMC article. Review.
This review analyzes the treatment of the most frequent monogenic autoinflammatory diseases, namely, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic fever syndrome, hyperimmunoglobulin D syndrome/mevalonate kinase deficiency, …
This review analyzes the treatment of the most frequent monogenic autoinflammatory diseases, namely, familial Mediterranean fever, tumor nec …
Natural history of mevalonate kinase deficiency: a literature review.
Zhang S. Zhang S. Pediatr Rheumatol Online J. 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7. Pediatr Rheumatol Online J. 2016. PMID: 27142780 Free PMC article. Review.
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduri
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involv
What's new in autoinflammation?
Ozen S. Ozen S. Pediatr Nephrol. 2019 Dec;34(12):2449-2456. doi: 10.1007/s00467-018-4155-4. Epub 2018 Dec 14. Pediatr Nephrol. 2019. PMID: 30552566 Review.
The delay in diagnosis of these four common diseases (familial Mediterranean fever, cryopyrin-associated periodic fever syndrome, mevalonate kinase deficiency, and TNF receptor-associated periodic fever syndrome) results in secondary amyloidosis of the kidney …
The delay in diagnosis of these four common diseases (familial Mediterranean fever, cryopyrin-associated periodic fever syndrome, mevalon
Management of Mevalonate Kinase Deficiency: A Pediatric Perspective.
Jeyaratnam J, Frenkel J. Jeyaratnam J, et al. Front Immunol. 2020 Jun 5;11:1150. doi: 10.3389/fimmu.2020.01150. eCollection 2020. Front Immunol. 2020. PMID: 32582214 Free PMC article. Review.
Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. ...Conclusion: Canakinumab is the only evidence-based treatment for mevalonate kinase deficiency
Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by …
139 results