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Items: 1 to 20 of 67

1.

The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.

van der Meer JW, Simon A.

Rheumatology (Oxford). 2016 Dec;55(suppl 2):ii23-ii29. Review.

PMID:
27856657
2.

Inflammasomes and dermatology.

Sá DC, Festa C Neto.

An Bras Dermatol. 2016 Sep-Oct;91(5):566-578. doi: 10.1590/abd1806-4841.20165577. Review.

3.

Development of the autoinflammatory disease damage index (ADDI).

Ter Haar NM, Annink KV, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler SM, Brogan PA, Cantarini L, Cattalini M, Cochino AV, De Benedetti F, Dedeoglu F, De Jesus AA, Della Casa Alberighi O, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Koné-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Ozen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Gattorno M, Frenkel J.

Ann Rheum Dis. 2017 May;76(5):821-830. doi: 10.1136/annrheumdis-2016-210092. Epub 2016 Nov 3.

PMID:
27811147
4.

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project.

Arthritis Rheumatol. 2016 Nov;68(11):2795-2805. doi: 10.1002/art.39763.

PMID:
27213830
5.

International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.

Ozen S, Kuemmerle-Deschner JB, Cimaz R, Livneh A, Quartier P, Kone-Paut I, Zeft A, Spalding S, Gul A, Hentgen V, Savic S, Foeldvari I, Frenkel J, Cantarini L, Patel D, Weiss J, Marinsek N, Degun R, Lomax KG, Lachmann HJ.

Arthritis Care Res (Hoboken). 2017 Apr;69(4):578-586. doi: 10.1002/acr.23120. Epub 2017 Mar 3.

PMID:
27723279
6.

Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.

Nakashimai H, Miyake F, Ohki S, Hattori S, Matsubayashi T, Izawa K, Nishikomori R, Heike T, Honda Y, Shigematsu Y.

Rheumatol Int. 2016 Oct;36(10):1477-8. doi: 10.1007/s00296-016-3522-3. Epub 2016 Jul 7. No abstract available.

7.

Natural history of mevalonate kinase deficiency: a literature review.

Zhang S.

Pediatr Rheumatol Online J. 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7. Review.

8.

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Peciuliene S, Burnyte B, Gudaitiene R, Rusoniene S, Drazdiene N, Liubsys A, Utkus A.

Pediatr Rheumatol Online J. 2016 Mar 25;14(1):19. doi: 10.1186/s12969-016-0081-9. Review.

9.

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, Acquaviva-Bourdain C, Hachulla E, Lecomte F, Touitou I, Ninet J, Philit JB, Messer L, Brouillard M, Girard-Madoux MH, Moutschen M, Raison-Peyron N, Hutin P, Duffau P, Trolliet P, Hatron PY, Heudier P, Cevallos R, Lequerré T, Brousse V, Lesire V, Audia S, Maucort-Boulch D, Cuisset L, Hot A.

Medicine (Baltimore). 2016 Mar;95(11):e3027. doi: 10.1097/MD.0000000000003027.

10.

Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology.

Marcuzzi A, Piscianz E, Zweyer M, Bortul R, Loganes C, Girardelli M, Baj G, Monasta L, Celeghini C.

Int J Mol Sci. 2016 Mar 11;17(3):365. doi: 10.3390/ijms17030365.

11.

Putative modifier genes in mevalonate kinase deficiency.

Marcuzzi A, Vozzi D, Girardelli M, Tricarico PM, Knowles A, Crovella S, Vuch J, Tommasini A, Piscianz E, Bianco AM.

Mol Med Rep. 2016 Apr;13(4):3181-9. doi: 10.3892/mmr.2016.4918. Epub 2016 Feb 22.

PMID:
26935981
12.

Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.

Yang JA, Choi JY, Kang EH, Ha YJ, Lee YJ, Song YW.

J Korean Med Sci. 2016 Feb;31(2):196-201. doi: 10.3346/jkms.2016.31.2.196. Epub 2016 Jan 26.

13.

Autoinflammatory Syndromes in Children.

Pepper RJ, Lachmann HJ.

Indian J Pediatr. 2016 Mar;83(3):242-7. doi: 10.1007/s12098-015-1985-y. Epub 2016 Jan 29. Review.

PMID:
26821543
14.

Amyloid A amyloidosis secondary to hyper IgD syndrome and response to IL-1 blockage therapy.

Kallianidis AF, Ray A, Goudkade D, de Fijter JW.

Neth J Med. 2016 Jan;74(1):43-6.

15.

Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signaling Pathway.

Muller AL, Freed DH.

Curr Mol Pharmacol. 2017;10(1):6-12. doi: 10.2174/1874467209666160112125805. Review.

PMID:
26758946
16.

Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.

Demirkaya E, Saglam C, Turker T, Koné-Paut I, Woo P, Doglio M, Amaryan G, Frenkel J, Uziel Y, Insalaco A, Cantarini L, Hofer M, Boiu S, Duzova A, Modesto C, Bryant A, Rigante D, Papadopoulou-Alataki E, Guillaume-Czitrom S, Kuemmerle-Deschner J, Neven B, Lachmann H, Martini A, Ruperto N, Gattorno M, Ozen S; Paediatric Rheumatology International Trials Organisations (PRINTO); Eurofever Project.

J Rheumatol. 2016 Jan;43(1):154-60. doi: 10.3899/jrheum.141249. Epub 2015 Nov 15.

PMID:
26568587
17.

Anti-interleukin 6 receptor therapy for hyper-IgD syndrome.

Musters A, Tak PP, Baeten DL, Tas SW.

BMJ Case Rep. 2015 Oct 29;2015. pii: bcr2015210513. doi: 10.1136/bcr-2015-210513.

PMID:
26516243
18.

In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.

Browne C, Timson DJ.

Ann Hum Genet. 2015 Nov;79(6):451-9. doi: 10.1111/ahg.12126. Epub 2015 Sep 29.

PMID:
26420133
19.

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Bianco AM, Faletra F, Vozzi D, Girardelli M, Knowles A, Tommasini A, Zauli G, Marcuzzi A.

Mol Med Rep. 2015 Oct;12(4):6128-32. doi: 10.3892/mmr.2015.4215. Epub 2015 Aug 11.

PMID:
26300074
20.

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.

Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R.

Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Epub 2015 Aug 21. Review.

PMID:
26299986

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