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Items: 1 to 20 of 156

1.

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 (PRINTO) and Eurofever Project..

Arthritis Rheumatol. 2016 May 23. doi: 10.1002/art.39763. [Epub ahead of print]

PMID:
27213830
2.

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M.

J Rheumatol. 2016 Apr 1. pii: jrheum.150962. [Epub ahead of print]

PMID:
27036377
3.

Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome.

Omenetti A, Carta S, Caorsi R, Finetti M, Marotto D, Lattanzi B, Jorini M, Delfino L, Penco F, Picco P, Buoncompagni A, Martini A, Rubartelli A, Gattorno M.

Rheumatology (Oxford). 2016 Mar 17. pii: kew031. [Epub ahead of print]

PMID:
26989109
4.

Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF).

Demirkaya E, Acikel C, Hashkes P, Gattorno M, Gul A, Ozdogan H, Turker T, Karadag O, Livneh A, Ben-Chetrit E, Ozen S; FMF Arthritis Vasculitis and Orphan disease Research in pediatric rheumatology (FAVOR).

Ann Rheum Dis. 2016 Jun;75(6):1051-6. doi: 10.1136/annrheumdis-2015-208671. Epub 2016 Jan 28.

PMID:
26823530
5.

EULAR recommendations for the management of familial Mediterranean fever.

Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, Ozdogan H, Abu I, Gattorno M, Hawkins PN, Yuce S, Kallinich T, Bilginer Y, Kastner D, Carmona L.

Ann Rheum Dis. 2016 Apr;75(4):644-51. doi: 10.1136/annrheumdis-2015-208690. Epub 2016 Jan 22.

6.

Consensus classification criteria for paediatric Behçet's disease from a prospective observational cohort: PEDBD.

Koné-Paut I, Shahram F, Darce-Bello M, Cantarini L, Cimaz R, Gattorno M, Anton J, Hofer M, Chkirate B, Bouayed K, Tugal-Tutkun I, Kuemmerle-Deschner J, Agostini H, Federici S, Arnoux A, Piedvache C, Ozen S; PEDBD group.

Ann Rheum Dis. 2016 Jun;75(6):958-64. doi: 10.1136/annrheumdis-2015-208491. Epub 2015 Dec 23.

PMID:
26698843
7.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

8.

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
9.

An In Silico Health Economic Model Applied to Cryopyrin Associated Periodic Syndromes (Caps): Cost Effectiveness of Prevention Effects of Ultra-Orphan Drugs for Rare Diseases.

Trieste L, Della Casa Alberighi O, Accame L, Lorenzoni V, Frenkel J, Gattorno M, Quartier P, Martini A, Turchetti G.

Value Health. 2015 Nov;18(7):A669. doi: 10.1016/j.jval.2015.09.2444. Epub 2015 Oct 20. No abstract available.

PMID:
26533752
10.

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I.

Ann Rheum Dis. 2015 Sep 17. pii: annrheumdis-2015-207701. doi: 10.1136/annrheumdis-2015-207701. [Epub ahead of print]

PMID:
26386126
11.

Redox distress and genetic defects conspire in systemic autoinflammatory diseases.

Varga G, Gattorno M, Foell D, Rubartelli A.

Nat Rev Rheumatol. 2015 Nov;11(11):670-80. doi: 10.1038/nrrheum.2015.105. Epub 2015 Aug 4. Review.

PMID:
26241183
12.

Recommendations for the management of autoinflammatory diseases.

ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB.

Ann Rheum Dis. 2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24. Review.

13.

CD56brightCD16- NK Cells Produce Adenosine through a CD38-Mediated Pathway and Act as Regulatory Cells Inhibiting Autologous CD4+ T Cell Proliferation.

Morandi F, Horenstein AL, Chillemi A, Quarona V, Chiesa S, Imperatori A, Zanellato S, Mortara L, Gattorno M, Pistoia V, Malavasi F.

J Immunol. 2015 Aug 1;195(3):965-72. doi: 10.4049/jimmunol.1500591. Epub 2015 Jun 19.

PMID:
26091716
14.

Anakinra: an emerging option for refractory idiopathic recurrent pericarditis: a systematic review of published evidence.

Lazaros G, Imazio M, Brucato A, Vassilopoulos D, Vasileiou P, Gattorno M, Tousoulis D, Martini A.

J Cardiovasc Med (Hagerstown). 2016 Apr;17(4):256-62. doi: 10.2459/JCM.0000000000000266.

PMID:
26090915
15.

From bench to bedside and back again: translational research in autoinflammation.

Holzinger D, Kessel C, Omenetti A, Gattorno M.

Nat Rev Rheumatol. 2015 Oct;11(10):573-85. doi: 10.1038/nrrheum.2015.79. Epub 2015 Jun 16. Review.

PMID:
26077920
16.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J.

J Allergy Clin Immunol. 2015 Nov;136(5):1337-45. doi: 10.1016/j.jaci.2015.04.016. Epub 2015 May 27.

PMID:
26025129
17.

Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.

Carta S, Penco F, Lavieri R, Martini A, Dinarello CA, Gattorno M, Rubartelli A.

Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):2835-40. doi: 10.1073/pnas.1424741112. Epub 2015 Feb 17.

18.

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.

Federici S, Sormani MP, Ozen S, Lachmann HJ, Amaryan G, Woo P, Koné-Paut I, Dewarrat N, Cantarini L, Insalaco A, Uziel Y, Rigante D, Quartier P, Demirkaya E, Herlin T, Meini A, Fabio G, Kallinich T, Martino S, Butbul AY, Olivieri A, Kuemmerle-Deschner J, Neven B, Simon A, Ozdogan H, Touitou I, Frenkel J, Hofer M, Martini A, Ruperto N, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and Eurofever Project.

Ann Rheum Dis. 2015 May;74(5):799-805. doi: 10.1136/annrheumdis-2014-206580. Epub 2015 Jan 30.

PMID:
25637003
19.

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.

Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J, Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S.

Ann Rheum Dis. 2015 Apr;74(4):635-41. doi: 10.1136/annrheumdis-2014-206844. Epub 2015 Jan 27. Review.

20.

Urticarial vasculitis and urticarial autoinflammatory syndromes.

Marzano AV, Tavecchio S, Venturini M, Sala R, Calzavara-Pinton P, Gattorno M.

G Ital Dermatol Venereol. 2015 Feb;150(1):41-50. Epub 2015 Jan 14. Review.

PMID:
25586657
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