Centre de Référence
des Maladies Autoinflammatoires
et des Amyloses

 
 
 
 
 
 

Publications

In press

FMF et autres MAI: de la génétique à la pratique médicale
I Touitou
BULL ACAD NATL MED - 2019

 

2019 Voir une autre année ?

Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.
Boursier G, Rittore C, Georgin-Lavialle S, Belot A, Galeotti C, Hachulla E, Hentgen V, Rossi-Semerano L, Sarrabay G, Touitou I.
J Clin Med, 2019 Oct 18. pii: E1729. doi: 10.3390/jcm8101729. Epub 2019 Oct 18.

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Ter Haar NM, Eijkelboom C, Cantarini L, Papa R, Brogan PA, Kone-Paut I, Modesto C, Hofer M, Iagaru N, Fingerhutová S, Insalaco A, Licciardi F, Uziel Y, Jelusic M, Nikishina I, Nielsen S, Papadopoulou-Alataki E, Olivieri AN, Cimaz R, Susic G, Stanevica V, van Gijn M, Vitale A, Ruperto N, Frenkel J, Gattorno M, Eurofever registry and the Pediatric Rheumatology International Trial Organization (PRINTO)..
Ann Rheum Dis, 2019 Oct. 78(10):1405-1411. doi: 10.1136/annrheumdis-2018-214472. Epub 2019 Jul 5.

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 Nov. 71(11):1955-1963. doi: 10.1002/art.41004. Epub 2019 Sep 9.

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.
Rowczenio D, Shinar Y, Ceccherini I, Sheils K, Van Gijn M, Patton SJ, Touitou I.
Eur J Hum Genet, 2019 Oct. 27(10):1502-1508. doi: 10.1038/s41431-019-0439-9. Epub 2019 Jun 11.

Safety of biological agents in paediatric rheumatic diseases: A real-life multicenter retrospective study using the JIRcohorte database.
Cabrera N, Lega JC, Kassai B, Wouters C, Kondi A, Cannizzaro E, Woerner A, Chausset A, Roethlisberger S, Jeanneret C, Aeschlimann F, Malik S, Duquesne A, Kaiser D, Higel L, Maes A, Berthet G, Hentgen V, Kone-Paut I, Belot A, Hofer M.
Joint Bone Spine, 2019 May. 86(3):343-350. doi: 10.1016/j.jbspin.2018.08.003. Epub 2018 Sep 7.

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.

Validation of the usual values provided by a supplier without access to a control population: example of serum amyloid A.
Fellahi S, Béraud L, Capeau J, Grateau G, Hentgen V, Georgin-Lavialle S, Bastard JP.
Ann Biol Clin (Paris), 2019 Jun 1. 77(3):255-259. doi: 10.1684/abc.2019.1439.

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity.
Boursier G, Hentgen V, Sarrabay G, Koné-Paut I, Touitou I.
J Pediatr, 2019 Jun. doi: 10.1016/j.jpeds.2019.02.039. Epub 2019 Mar 27.

Neutropenia During Tocilizumab Treatment Is Not Associated with Infection Risk in Systemic or Polyarticular-course Juvenile Idiopathic Arthritis.
Pardeo M, Wang J, Ruperto N, Alexeeva E, Chasnyk V, Schneider R, Horneff G, Huppertz HI, Minden K, Onel K, Zemel L, Martin A, Koné-Paut I, Siamopoulou-Mavridou A, Silva CA, Porter-Brown B, Bharucha KN, Brunner HI, De Benedetti F, Paediatric Rheumatology International Trials Organisation (PRINTO) and the Pediatric Rheumatology Collaborative Study Group (PRCSG)..
J Rheumatol, 2019 Sep. 46(9):1117-1126. doi: 10.3899/jrheum.180795. Epub 2019 Mar 1.

Extensive Ethnic Variation and Linkage Disequilibrium at the <i>FCGR2/3</i> Locus: Different Genetic Associations Revealed in Kawasaki Disease.
Nagelkerke SQ, Tacke CE, Breunis WB, Tanck MWT, Geissler J, Png E, Hoang LT, van der Heijden J, Naim ANM, Yeung RSM, Levin ML, Wright VJ, Burgner DP, Ponsonby AL, Ellis JA, Cimaz R, Shimizu C, Burns JC, Fijnvandraat K, van der Schoot CE, van den Berg TK, de Boer M, Davila S, Hibberd ML, Kuijpers TW, International Kawasaki Disease Genetics Consortium..
Front Immunol, 2019. doi: 10.3389/fimmu.2019.00185. Epub 2019 Mar 21.

Expert opinion on the use of biological therapy in non-infectious uveitis.
Touhami S, Diwo E, Sève P, Trad S, Bielefeld P, Sène D, Abad S, Brézin A, Quartier P, Koné Paut I, Weber M, Chiquet C, Errera MH, Sellam J, Cacoub P, Kaplanski G, Kodjikian L, Bodaghi B, Saadoun D.
Expert Opin Biol Ther, 2019 May. 19(5):477-490. doi: 10.1080/14712598.2019.1595578. Epub 2019 Apr 16.

Comment on: Familial Mediterranean fever: breaking all the (genetic) rules.
Touitou I.
Rheumatology (Oxford), 2019 Mar 21. pii: kez086. doi: 10.1093/rheumatology/kez086. Epub 2019 Mar 21.

A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients.
Luxembourger C, Ruyssen-Witrand A, Ladhari C, Rittore C, Degboe Y, Maillefert JF, Gaudin P, Marotte H, Wendling D, Jorgensen C, Cantagrel A, Constantin A, Nigon D, Touitou I, Gottenberg JE, Pers YM.
Pharmacogenomics J, 2019 Aug. 19(4):368-374. doi: 10.1038/s41397-019-0072-6. Epub 2019 Jan 16.

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.

Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, Deng Z, Paut IK, Goldbach-Mansky R, Krüger E.
J Allergy Clin Immunol, 2019 May. 143(5):1939-1943.e8. doi: 10.1016/j.jaci.2018.12.1012. Epub 2019 Jan 18.