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Items: 1 to 50 of 73

1.

Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger.

Brogan PA, Hofer M, Kuemmerle-Deschner JB, Koné-Paut I, Roesler J, Kallinich T, Horneff G, Calvo Penadés I, Sevilla-Perez B, Goffin L, Lauwerys BR, Lachmann HJ, Uziel Y, Wei X, Laxer RM.

Arthritis Rheumatol. 2019 Jun 4. doi: 10.1002/art.41004. [Epub ahead of print]

PMID:
31161734
2.

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).

Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Review.

PMID:
31018962
3.

The European network for care of children with paediatric rheumatic diseases: care across borders.

Dolezalova P, Anton J, Avcin T, Beresford MW, Brogan PA, Constantin T, Egert Y, Foeldvari I, Foster HE, Hentgen V, Kone-Paut I, Kuemmerle-Deschner JB, Lahdenne P, Magnusson B, Martini A, McCann L, Minden K, Ozen S, Schoemaker C, Quartier P, Ravelli A, Rumba-Rozenfelde I, Ruperto N, Vastert S, Wouters C, Zulian F, Wulffraat NM.

Rheumatology (Oxford). 2019 Jul 1;58(7):1188-1195. doi: 10.1093/rheumatology/key439.

PMID:
30668879
4.

Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults.

Erbis G, Schmidt K, Hansmann S, Sergiichuk T, Michler C, Kuemmerle-Deschner JB, Benseler SM.

Pediatr Rheumatol Online J. 2018 Dec 20;16(1):81. doi: 10.1186/s12969-018-0300-7.

5.

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.

Federici S, Vanoni F, Ben-Chetrit E, Cantarini L, Frenkel J, Goldbach-Mansky R, Gul A, Hoffman H, Koné-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Martini A, Obici L, Ozen S, Simon A, Hofer M, Ruperto N, Gattorno M; Eurofever and the Pediatric Rheumatology International Trials Organization (PRINTO).

J Rheumatol. 2019 Apr;46(4):429-436. doi: 10.3899/jrheum.180056. Epub 2018 Nov 1.

PMID:
30385706
6.

In silico validation of the Autoinflammatory Disease Damage Index.

Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, 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, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M, Frenkel J.

Ann Rheum Dis. 2018 Nov;77(11):1599-1605. doi: 10.1136/annrheumdis-2018-213725. Epub 2018 Aug 4.

PMID:
30077992
7.

Flare of a Cryopyrin-associated Periodic Syndrome Following Vaccination with Neisseria Meningitidis Polysaccharides.

Walker UA, Luetke Volksbeck S, Kuemmerle-Deschner J.

J Rheumatol. 2018 Jun;45(6):878-879. doi: 10.3899/jrheum.171037. No abstract available.

PMID:
29858461
8.

The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.

Girschick H, Finetti M, Orlando F, Schalm S, Insalaco A, Ganser G, Nielsen S, Herlin T, Koné-Paut I, Martino S, Cattalini M, Anton J, Mohammed Al-Mayouf S, Hofer M, Quartier P, Boros C, Kuemmerle-Deschner J, Pires Marafon D, Alessio M, Schwarz T, Ruperto N, Martini A, Jansson A, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever registry.

Rheumatology (Oxford). 2018 Aug 1;57(8):1504. doi: 10.1093/rheumatology/key143. No abstract available.

PMID:
29718410
9.

The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.

Girschick H, Finetti M, Orlando F, Schalm S, Insalaco A, Ganser G, Nielsen S, Herlin T, Koné-Paut I, Martino S, Cattalini M, Anton J, Al-Mayouf SM, Hofer M, Quartier P, Boros C, Kuemmerle-Deschner J, Pires Marafon D, Alessio M, Schwarz T, Ruperto N, Martini A, Jansson A, Gattorno M; PRINTO and the Eurofever registry.

Rheumatology (Oxford). 2018 Mar 27. doi: 10.1093/rheumatology/key058. [Epub ahead of print] Erratum in: Rheumatology (Oxford). 2018 Aug 1;57(8):1504.

PMID:
29596638
10.

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, Neven B, Kuemmerle-Deschner J, Ozgodan H, Caorsi R, Federici S, Finetti M, Trachana M, Brunner J, Bezrodnik L, Pinedo Gago MC, Maggio MC, Tsitsami E, Al Suwairi W, Espada G, Shcherbina A, Aksu G, Ruperto N, Martini A, Ceccherini I, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project.

Orphanet J Rare Dis. 2017 Oct 18;12(1):167. doi: 10.1186/s13023-017-0720-3.

11.

Recommendations for collaborative paediatric research including biobanking in Europe: a Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) initiative.

Kuemmerle-Deschner JB, Hansmann S, Wulffraat NM, Vastert SJ, Hens K, Anton J, Avcin T, Martini A, Koné-Paut I, Uziel Y, Ravelli A, Wouters C, Shaw D, Özen S, Eikelberg A, Prakken BJ, Ruperto N, Horneff G, Constantin T, Beresford MW, Sikken M, Foster HE, Haug I, Schuller S, Jägle C, Benseler SM.

Ann Rheum Dis. 2018 Mar;77(3):319-327. doi: 10.1136/annrheumdis-2017-211904. Epub 2017 Oct 11. Review.

PMID:
29021237
12.

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.

Youngstein T, Hoffmann P, Gül A, Lane T, Williams R, Rowczenio DM, Ozdogan H, Ugurlu S, Ryan J, Harty L, Riminton S, Headley AP, Roesler J, Blank N, Kuemmerle-Deschner JB, Simon A, Woolf AS, Hawkins PN, Lachmann HJ.

Rheumatology (Oxford). 2017 Dec 1;56(12):2102-2108. doi: 10.1093/rheumatology/kex305.

13.

Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.

Kuemmerle-Deschner JB, Verma D, Endres T, Broderick L, de Jesus AA, Hofer F, Blank N, Krause K, Rietschel C, Horneff G, Aksentijevich I, Lohse P, Goldbach-Mansky R, Hoffman HM, Benseler SM.

Arthritis Rheumatol. 2017 Nov;69(11):2233-2240. doi: 10.1002/art.40208. Epub 2017 Oct 17.

14.

Safety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based study.

Jaeger VK, Hoffman HM, van der Poll T, Tilson H, Seibert J, Speziale A, Junge G, Franke K, Vritzali E, Hawkins PN, Kuemmerle-Deschner J, Walker UA.

Rheumatology (Oxford). 2017 Sep 1;56(9):1484-1491. doi: 10.1093/rheumatology/kex185.

PMID:
28482054
15.

Response to: 'Why CAPS criteria are not diagnostic criteria?' by Landewé and van der Heijde.

Kuemmerle-Deschner JB, Benseler SM.

Ann Rheum Dis. 2017 Apr;76(4):e8. doi: 10.1136/annrheumdis-2016-210786. Epub 2016 Dec 16. No abstract available.

PMID:
27986656
16.

Response to: 'Criteria for CAPS, is it all in the name?' by Touitou and Sarrabay.

Kuemmerle-Deschner JB, Benseler SM.

Ann Rheum Dis. 2017 May;76(5):e10. doi: 10.1136/annrheumdis-2016-210726. Epub 2016 Nov 29. No abstract available.

PMID:
27899375
17.

Comparison of treatment response, remission rate and drug adherence in polyarticular juvenile idiopathic arthritis patients treated with etanercept, adalimumab or tocilizumab.

Horneff G, Klein A, Klotsche J, Minden K, Huppertz HI, Weller-Heinemann F, Kuemmerle-Deschner J, Haas JP, Hospach A.

Arthritis Res Ther. 2016 Nov 24;18(1):272.

18.

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.

19.

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.

20.

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM.

Ann Rheum Dis. 2017 Jun;76(6):942-947. doi: 10.1136/annrheumdis-2016-209686. Epub 2016 Oct 4. Review.

PMID:
27707729
21.

Induction of Myeloid-Derived Suppressor Cells in Cryopyrin-Associated Periodic Syndromes.

Ballbach M, Hall T, Brand A, Neri D, Singh A, Schaefer I, Herrmann E, Hansmann S, Handgretinger R, Kuemmerle-Deschner J, Hartl D, Rieber N.

J Innate Immun. 2016;8(5):493-506. doi: 10.1159/000446615. Epub 2016 Jun 29.

22.

Comment on: real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome: reply.

Kuemmerle-Deschner JB, Benseler SM.

Rheumatology (Oxford). 2016 Jul;55(7):1340-1. doi: 10.1093/rheumatology/kew060. Epub 2016 May 19. No abstract available.

PMID:
27208220
23.

NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

Sobolewska B, Angermair E, Deuter C, Doycheva D, Kuemmerle-Deschner J, Zierhut M.

J Rheumatol. 2016 Jun;43(6):1101-6. doi: 10.3899/jrheum.150681. Epub 2016 May 1. Erratum in: J Rheumatol. 2016 Jul;43(7):1451.

PMID:
27134254
24.

Brief Report: Severe Inflammation Following Vaccination Against Streptococcus pneumoniae in Patients With Cryopyrin-Associated Periodic Syndromes.

Walker UA, Hoffman HM, Williams R, Kuemmerle-Deschner J, Hawkins PN.

Arthritis Rheumatol. 2016 Feb;68(2):516-20. doi: 10.1002/art.39482.

25.

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.

26.

Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome.

Kuemmerle-Deschner JB, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weißbarth-Riedel E, Schuetz C, Kallinich T, Krause K, Rietschel C, Horneff G, Benseler SM.

Rheumatology (Oxford). 2016 Apr;55(4):689-96. doi: 10.1093/rheumatology/kev416. Epub 2015 Dec 14.

PMID:
26667214
27.

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
28.

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.

Kuemmerle-Deschner JB, Koitschev A, Tyrrell PN, Plontke SK, Deschner N, Hansmann S, Ummenhofer K, Lohse P, Koitschev C, Benseler SM.

Pediatr Rheumatol Online J. 2015 Nov 4;13(1):43. doi: 10.1186/s12969-015-0041-9.

29.

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.

30.

CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.

Kuemmerle-Deschner JB.

Semin Immunopathol. 2015 Jul;37(4):377-85. doi: 10.1007/s00281-015-0491-7. Epub 2015 May 12. Review.

PMID:
25963520
31.

Dynamic knee joint function in children with juvenile idiopathic arthritis (JIA).

Hansmann S, Benseler SM, Kuemmerle-Deschner JB.

Pediatr Rheumatol Online J. 2015 Mar 13;13:8. doi: 10.1186/s12969-015-0004-1. eCollection 2015.

32.

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
33.

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.

34.

A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.

Rieber N, Gavrilov A, Hofer L, Singh A, Öz H, Endres T, Schäfer I, Handgretinger R, Hartl D, Kuemmerle-Deschner J.

Clin Immunol. 2015 Mar;157(1):56-64. doi: 10.1016/j.clim.2015.01.003. Epub 2015 Jan 14.

PMID:
25596455
35.

Autologous stem cell transplantation leads to a change in proinflammatory plasma cytokine profile of patients with juvenile dermatomyositis correlating with disease activity.

Bellutti Enders F, Delemarre EM, Kuemmerle-Deschner J, van der Torre P, Wulffraat NM, Prakken BP, van Royen-Kerkhof A, van Wijk F.

Ann Rheum Dis. 2015 Jan;74(1):315-7. doi: 10.1136/annrheumdis-2014-206287. Epub 2014 Sep 30. No abstract available.

PMID:
25269830
36.

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever.

Ann Rheum Dis. 2015 Nov;74(11):2043-9. doi: 10.1136/annrheumdis-2013-204991. Epub 2014 Jul 18.

PMID:
25038238
37.

Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians.

Kuemmerle-Deschner JB, Haug I.

Ther Adv Musculoskelet Dis. 2013 Dec;5(6):315-29. doi: 10.1177/1759720X13502629. Review.

38.

Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.

Kuemmerle-Deschner JB, Dembi Samba S, Tyrrell PN, Koné-Paut I, Marie I, Deschner N, Benseler SM.

Arthritis Care Res (Hoboken). 2014 May;66(5):765-72. doi: 10.1002/acr.22206.

39.

Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes.

Piram M, Koné-Paut I, Lachmann HJ, Frenkel J, Ozen S, Kuemmerle-Deschner J, Stojanov S, Simon A, Finetti M, Sormani MP, Martini A, Gattorno M, Ruperto N; EUROFEVER, EUROTRAPS and the Paediatric Rheumatology International Trials Organisation (PRINTO) networks.

Ann Rheum Dis. 2014 Dec;73(12):2168-73. doi: 10.1136/annrheumdis-2013-203666. Epub 2013 Sep 11.

40.

Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry.

Tilson H, Primatesta P, Kim D, Rauer B, Hawkins PN, Hoffman HM, Kuemmerle-Deschner J, van der Poll T, Walker UA.

Orphanet J Rare Dis. 2013 Sep 10;8:139. doi: 10.1186/1750-1172-8-139.

41.

Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.

Kuemmerle-Deschner JB, Wittkowski H, Tyrrell PN, Koetter I, Lohse P, Ummenhofer K, Reess F, Hansmann S, Koitschev A, Deuter C, Bialkowski A, Foell D, Benseler SM.

Arthritis Res Ther. 2013;15(3):R64.

42.

Inflammasome and cytokine blocking strategies in autoinflammatory disorders.

Moll M, Kuemmerle-Deschner JB.

Clin Immunol. 2013 Jun;147(3):242-75. doi: 10.1016/j.clim.2013.04.008. Epub 2013 Apr 19. Review.

PMID:
23697917
43.

Hearing loss in Muckle-Wells syndrome.

Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, Hansmann S, Plontke SK, Koitschev C, Koetter I, Angermair E, Benseler SM.

Arthritis Rheum. 2013 Mar;65(3):824-31. doi: 10.1002/art.37810.

44.

Double-blind, placebo-controlled randomized trial with adalimumab for treatment of juvenile onset ankylosing spondylitis (JoAS): significant short term improvement.

Horneff G, Fitter S, Foeldvari I, Minden K, Kuemmerle-Deschner J, Tzaribacev N, Thon A, Borte M, Ganser G, Trauzeddel R, Huppertz HI.

Arthritis Res Ther. 2012 Oct 24;14(5):R230. doi: 10.1186/ar4072.

45.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Review.

PMID:
22791401
46.

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.

Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C, Koné-Paut I, Cantarini L, Insalaco A, Neven B, Hofer M, Rigante D, Al-Mayouf S, Touitou I, Gallizzi R, Papadopoulou-Alataki E, Martino S, Kuemmerle-Deschner J, Obici L, Iagaru N, Simon A, Nielsen S, Martini A, Ruperto N, Gattorno M, Frenkel J; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects.

Ann Rheum Dis. 2013 May;72(5):678-85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29. Review.

47.

Progressive familial hearing loss in Muckle-Wells syndrome.

Koitschev A, Gramlich K, Hansmann S, Benseler S, Plontke SK, Koitschev C, Koetter I, Kuemmerle-Deschner JB.

Acta Otolaryngol. 2012 Jul;132(7):756-62. doi: 10.3109/00016489.2012.656321. Epub 2012 Apr 12.

PMID:
22497426
48.

Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study.

Koné-Paut I, Lachmann HJ, Kuemmerle-Deschner JB, Hachulla E, Leslie KS, Mouy R, Ferreira A, Lheritier K, Patel N, Preiss R, Hawkins PN; Canakinumab in CAPS Study Group.

Arthritis Res Ther. 2011;13(6):R202. doi: 10.1186/ar3535. Epub 2011 Dec 9.

49.

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.

Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM.

Arthritis Res Ther. 2011;13(6):R196. doi: 10.1186/ar3526. Epub 2011 Dec 6.

50.

MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes.

Wittkowski H, Kuemmerle-Deschner JB, Austermann J, Holzinger D, Goldbach-Mansky R, Gramlich K, Lohse P, Jung T, Roth J, Benseler SM, Foell D.

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