Centre de Référence
des Maladies Autoinflammatoires
et des Amyloses

 
 
 
 
 
 

Publications

In press

A comparative clinical trial to assess a standardized escalation dose strategy of interleukin-1 blockade in Kawasaki disease: The ANACOMP trial
Koné-Paut I, Toumazi A, Bourmaud A
CLIN INVESTIG (LOND) - 2021

Dermatomyositis-like eruptions and fasciitis with novel compound heterozygous MEFV mutations: Newly recognized features of a variant of familial Mediterranean fever: Response to Sumida"
I Touitou
J DERMATOL - 2021

Twists and turns of the genetic story of mevalonate kinase-associated diseases: a review
I Touitou
GENES DIS - 2021

 

2021 Voir une autre année ?

Suboptimal vaccination coverage of recommended vaccines among French children with recurrent autoinflammatory fever syndromes: a study from the Juvenile Inflammatory Rheumatism cohort.
Rollet-Cohen V, Mirete J, Dingulu G, Hofer F, Hofer M, Woerner A, Dommergues MA, Hentgen V.
Clin Rheumatol, 2021 Jul. 40(7):2855-2864. doi: 10.1007/s10067-020-05553-y. Epub 2021 Jan 13.

[Periodic fever syndrome associated with mutations in the TNF type 1 receptor gene: A differential diagnosis of familial Mediterranean fever that should not be overlooked in patients of Mediterranean origin].
Bourguiba R, Savey L, Aouba A, Deshayes S, Fain O, Martin-Silva N, Hentgen V, Desdoits A, Grateau G, Giurgea I, Georgin-Lavialle S.
Rev Med Interne, 2021 Jul. 42(7):459-464. doi: 10.1016/j.revmed.2020.08.007. Epub 2020 Oct 31.

[Transition from pediatric to adult care: Recommendations of the French network for autoimmune and autoinflammatory diseases (FAI2R)].
Georgin-Lavialle S, Hentgen V, Truchetet ME, Romier M, Hérasse M, Maillard H, Pha M, Pillet P, Reumaux H, Duquesne A, Larbre JP, Belot A.
Rev Med Interne, 2021 Jun 16. pii: S0248-8663(21)00028-X. doi: 10.1016/j.revmed.2021.02.003. Epub 2021 Jun 16.

Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.
Deshayes S, Bazille C, El Khouri E, Kone-Paut I, Giurgea I, Georgin-Lavialle S, Martin Silva N, Dumont A, Ollivier I, Amselem S, de Boysson H, Aouba A.
Liver Int, 2021 Aug. 41(8):1894-1900. doi: 10.1111/liv.14935. Epub 2021 Jun 8.

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I.
J Clin Med, 2021 Apr 7. pii: 1552. doi: 10.3390/jcm10081552. Epub 2021 Apr 7.

Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study.
Proisy M, Vivier PH, Morel B, Bruneau B, Sembely-Taveau C, Vacheresse S, Devillers A, Lecloirec J, Bodet-Milin C, Dubois M, Hamonic S, Bajeux E, Ganivet A, Adamsbaum C, Treguier C, PEDIMA study research group..
Eur Radiol, 2021 Apr 29. doi: 10.1007/s00330-021-07896-9. Epub 2021 Apr 29.

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
Lodi L, Melki I, Bondet V, Seabra L, Rice GI, Carter E, Lepelley A, Martin-Niclós MJ, Al Adba B, Bader-Meunier B, Barth M, Blauwblomme T, Bodemer C, Boespflug-Tanguy O, Dale RC, Desguerre I, Ducrocq C, Dulieu F, Dumaine C, Ellul P, Hadchouel A, Hentgen V, Hié M, Hully M, Jeziorski E, Lévy R, Mochel F, Orcesi S, Passemard S, Pouletty M, Quartier P, Renaldo F, Seidl R, Shetty J, Neven B, Blanche S, Duffy D, Crow YJ, Frémond ML.
J Clin Immunol, 2021 Apr. 41(3):603-609. doi: 10.1007/s10875-020-00952-x. Epub 2021 Jan 7.

Regulatory T cell/Th17 balance in the pathogenesis of pediatric Behçet disease.
Filleron A, Tran TA, Hubert A, Letierce A, Churlaud G, Koné-Paut I, Saadoun D, Cezar R, Corbeau P, Rosenzwajg M.
Rheumatology (Oxford), 2021 Mar 18. pii: keab253. doi: 10.1093/rheumatology/keab253. Epub 2021 Mar 18.

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
Omarjee O, Mathieu AL, Quiniou G, Moreews M, Ainouze M, Frachette C, Melki I, Dumaine C, Gerfaud-Valentin M, Duquesne A, Kallinich T, Tahir Turanli E, Malcus C, Viel S, Pescarmona R, Georgin-Lavialle S, Jamilloux Y, Larbre JP, Sarrabay G, Magnotti F, Rice GI, Bleicher F, Reboulet J, Merabet S, Henry T, Crow YJ, Faure M, Walzer T, Belot A.
J Exp Med, 2021 Mar 1. pii: e20201006. doi: 10.1084/jem.20201006.

Could we measure hair colchicine to assess colchicine observance in familial Mediterranean fever?
Georgin-Lavialle S, Abe E, Larabi A, Savey L, Ducharme-Bénard S, Hentgen V, Grateau G, Alvarez JC.
Rheumatology (Oxford), 2021 Mar 2. 60(3):1563-1564. doi: 10.1093/rheumatology/keaa811.

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C, Méchin D, Sanchez E, Marinèche L, Ea V, Soler S, Vereecke M, Mallavialle A, Richard E, Duroux-Richard I, Apparailly F, Touitou I, Grandemange S.
Sci Rep, 2021 Feb 18. 11(1):4172. doi: 10.1038/s41598-021-83539-9. Epub 2021 Feb 18.

French recommendations for the management of Behçet's disease.
Kone-Paut I, Barete S, Bodaghi B, Deiva K, Desbois AC, Galeotti C, Gaudric J, Kaplanski G, Mahr A, Noel N, Piram M, Tran TA, Wechsler B, Saadoun D, Collaborators..
Orphanet J Rare Dis, 2021 Feb 24. 16(Suppl 1):352. doi: 10.1186/s13023-020-01620-4. Epub 2021 Feb 24.

EULAR points to consider on pathophysiology and use of immunomodulatory therapies in COVID-19.
Alunno A, Najm A, Machado PM, Bertheussen H, Burmester GR, Carubbi F, De Marco G, Giacomelli R, Hermine O, Isaacs JD, Koné-Paut I, Magro-Checa C, McInnes I, Meroni PL, Quartuccio L, Ramanan AV, Ramos-Casals M, Rodríguez Carrio J, Schulze-Koops H, Stamm TA, Tas SW, Terrier B, McGonagle DG, Mariette X.
Ann Rheum Dis, 2021 Feb 5. pii: annrheumdis-2020-219724. doi: 10.1136/annrheumdis-2020-219724. Epub 2021 Feb 5.

Therapeutic alliance is associated to treatment adherence in children with juvenile idiopathic arthritis.
Lohse A, Lemelle I, Pillet P, Duquesne A, Ballot C, Tran TA, Sparsa L, Goumy L, Reumaux H, Rossi L, Solau-Gervais E, Arbault A, Alleyrat C, Guillemin F, Devauchelle-Pensec V.
Joint Bone Spine, 2021 Jul. 88(4):105151. doi: 10.1016/j.jbspin.2021.105151. Epub 2021 Feb 6.

Delineating phenotypes of Kawasaki disease and SARS-CoV-2-related inflammatory multisystem syndrome: A French study and literature review.
Cherqaoui B, Koné-Paut I, Yager H, Bourgeois FL, Piram M.
Rheumatology (Oxford), 2021 Jan 25. pii: keab026. doi: 10.1093/rheumatology/keab026. Epub 2021 Jan 25.

Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort.
Hentgen V, Koné-Paut I, Belot A, Galeotti C, Grateau G, Carbasse A, Pagnier A, Pillet P, Delord M, Hofer M, Georgin-Lavialle S.
Front Pharmacol, 2020. doi: 10.3389/fphar.2020.568865. Epub 2021 Jan 11.