Centre de Référence
des Maladies Autoinflammatoires
et des Amyloses

 
 
 
 
 
 

Publications

In press

First report of MEFV gene duplication in a patient with familial Mediterranean fever
D. Mechin, M. André, A. Durinikova, G. Boursier, B. Dumont, I. Touitou, G. Sarrabay
CLIN EXP RHEUMATOL - 2020

Late-onset EBV susceptibility and refractory pure red cell aplasia revealing DADA2
T. Le Voyer, D. Boutboul, A. Ledoux, F. Sicre de Fontbrune, G. Boursier, S. Latour, G. Le Guenno
J CLIN IMMUNOL - 2020

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases (PAIDS)
Guilaine Boursier, Maryam Piram, Cécile Rittore, Guillaume Sarrabay, Isabelle Touitou
J INVEST DERMATOL - 2020

 

2020 Voir une autre année ?

Response to 'Correspondence on 'Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID19): a multicentre cohort'' by Mastrolia et al.
Borocco C, Pouletty M, Galeotti C, Meinzer U, Faye A, Koné-Paut I, Ouldali N, Melki I.
Ann Rheum Dis, 2020 Oct 6. pii: annrheumdis-2020-218814. doi: 10.1136/annrheumdis-2020-218814. Epub 2020 Oct 6.

Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay G.
Clin Exp Immunol, 2020 Sep 9. doi: 10.1111/cei.13511. Epub 2020 Sep 9.

Burden of illness in hereditary periodic fevers: a multinational observational patient diary study.
Kuemmerle-Deschner JB, Quartier P, Kone-Paut I, Hentgen V, Marzan KA, Dedeoglu F, Lachmann HJ, Kallinich T, Blank N, Ozen S, Bilginer Y, Hausmann JS, Diaz A, Perrinjaquet M, Marinsek N, Lomax KG, Hur P, Dekker EL, Livneh A.
Clin Exp Rheumatol, 2020 Sep 30. Epub 2020 Sep 30.

Open Label, Phase II Study with Anakinra in Intravenous Immunoglobulin-Resistant Kawasaki Disease.
Kone-Paut I, Tellier S, Belot A, Brochard K, Guitton C, Marie I, Meinzer U, Cherqaoui B, Galeotti C, Boukhedouni N, Agostini H, Arditi M, Lambert V, Piedvache C.
Arthritis Rheumatol, 2020 Aug 11. doi: 10.1002/art.41481. Epub 2020 Aug 11.

Tapering Canakinumab Monotherapy in Patients with Systemic Juvenile Idiopathic Arthritis in Clinical Remission: Results from an Open-label, Randomized Phase IIIb/IV Study.
Quartier P, Alexeeva E, Tamàs C, Chasnyk V, Wulffraat N, Palmblad K, Wouters C, Brunner H, Marzan K, Schneider R, Horneff G, Martini A, Anton J, Wei X, Slade A, Ruperto N, Abrams K, Pediatric Rheumatology International Trials Organization (PRINTO), the Pediatric Rheumatology Collaborative Study Group (PRCSG)..
Arthritis Rheumatol, 2020 Aug 11. doi: 10.1002/art.41488. Epub 2020 Aug 11.

Response to: 'Correspondence on 'Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort' by Pouletty et al' by Pino et al.
Ouldali N, Pouletty M, Lokmer J, Benzouid C, Beyler C, Deho A, Meinzer U, Faye A, Melki I, Great Paris Region (GPR) Kawa-COVID-19 consortium..
Ann Rheum Dis, 2020 Aug 5. pii: annrheumdis-2020-218614. doi: 10.1136/annrheumdis-2020-218614. Epub 2020 Aug 5.

Infliximab is an effective glucocorticoid-sparing treatment for Takayasu arteritis: Results of a multicenter open-label prospective study.
Mertz P, Kleinmann JF, Lambert M, Puéchal X, Bonnin A, Boulon C, Diot E, Hachulla E, Harid N, Harle JR, Helder G, Kahn JE, Kone-Paut I, Lavigne C, Magy-Bertrand N, Maillard H, Martin T, Maurier F, Poindron V, Schleinitz N, Sibilia J, Arnaud L.
Autoimmun Rev, 2020 Oct. 19(10):102634. doi: 10.1016/j.autrev.2020.102634. Epub 2020 Aug 13.

Response to: 'Exaggerated neutrophil extracellular trap formation in Kawasaki disease: a key phenomenon behind the outbreak in western countries?' by Yamashita et al.
Pouletty M, Dingulu G, Ouldali N, Corseri O, Ducrocq C, Meinzer U, Faye A, Galeotti C, Melki I, Great Paris Region (GPR) Kawa-COVID-19 consortium..
Ann Rheum Dis, 2020 Aug 21. pii: annrheumdis-2020-218644. doi: 10.1136/annrheumdis-2020-218644. Epub 2020 Aug 21.

How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
Koné-Paut I, Dusser P.
G Ital Dermatol Venereol, 2020 Jul 2. doi: 10.23736/S0392-0488.20.06708-5. Epub 2020 Jul 2.

Efficacy and Safety of Canakinumab in sJIA Patients with and without Fever at Baseline: Results from an Open-label, Active Treatment Extension Study.
Brunner HI, Quartier P, Alexeeva E, Constantin T, Koné-Paut I, Marzan K, Schneider R, Wulffraat NM, Chasnyk V, Tirosh I, Kallinich T, Kuemmerle-Deschner J, Wouters C, Lauwerys B, Nikishina I, Trachana M, Vougiouka O, Martini A, Lovell DJ, Levy J, Vritzali E, Ruperto N, Paediatric Rheumatology International Trials Organisation (PRINTO), the Pediatric Rheumatology Collaborative Study Group (PRCSG)..
Arthritis Rheumatol, 2020 Jul 10. doi: 10.1002/art.41436. Epub 2020 Jul 10.

Long-term outcomes in patients with polyarticular juvenile idiopathic arthritis receiving adalimumab with or without methotrexate.
Lovell DJ, Brunner HI, Reiff AO, Jung L, Jarosova K, Němcová D, Mouy R, Sandborg C, Bohnsack JF, Elewaut D, Gabriel C, Higgins G, Kone-Paut I, Jones OY, Vargová V, Chalom E, Wouters C, Lagunes I, Song Y, Martini A, Ruperto N.
RMD Open, 2020 Jul. pii: e001208. doi: 10.1136/rmdopen-2020-001208.

Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort.
Pouletty M, Borocco C, Ouldali N, Caseris M, Basmaci R, Lachaume N, Bensaid P, Pichard S, Kouider H, Morelle G, Craiu I, Pondarre C, Deho A, Maroni A, Oualha M, Amoura Z, Haroche J, Chommeloux J, Bajolle F, Beyler C, Bonacorsi S, Carcelain G, Koné-Paut I, Bader-Meunier B, Faye A, Meinzer U, Galeotti C, Melki I.
Ann Rheum Dis, 2020 Aug. 79(8):999-1006. doi: 10.1136/annrheumdis-2020-217960. Epub 2020 Jun 11.

Systemic autoinflammatory diseases: Clinical state of the art.
Georgin-Lavialle S, Ducharme-Benard S, Sarrabay G, Savey L, Grateau G, Hentgen V.
Best Pract Res Clin Rheumatol, 2020 Jun 13. doi: 10.1016/j.berh.2020.101529. Epub 2020 Jun 13.

Is it Kawasaki shock syndrome, Kawasaki-like disease or pediatric inflammatory multisystem disease? The importance of semantic in the era of COVID-19 pandemic.
Koné-Paut I, Cimaz R.
RMD Open, 2020 Jun. pii: e001333. doi: 10.1136/rmdopen-2020-001333.

SARS-CoV-2-related paediatric inflammatory multisystem syndrome, an epidemiological study, France, 1 March to 17 May 2020.
Belot A, Antona D, Renolleau S, Javouhey E, Hentgen V, Angoulvant F, Delacourt C, Iriart X, Ovaert C, Bader-Meunier B, Kone-Paut I, Levy-Bruhl D.
Euro Surveill, 2020 Jun. doi: 10.2807/1560-7917.ES.2020.25.22.2001010.

Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.
Cozette C, Scheffler F, Lombart M, Massardier J, Bolze PA, Hajri T, Golfier F, Touitou I, Rittore C, Gondry J, Merviel P, Benkhalifa M, Cabry R.
J Assist Reprod Genet, 2020 Sep. 37(9):2273-2277. doi: 10.1007/s10815-020-01861-z. Epub 2020 Jun 26.

C-reactive protein and ART outcomes: a systematic review.
Brouillet S, Boursier G, Anav M, Du Boulet De La Boissière B, Gala A, Ferrieres-Hoa A, Touitou I, Hamamah S.
Hum Reprod Update, 2020 Sep 1. 26(5):753-773. doi: 10.1093/humupd/dmaa012.

Long-term efficacy and safety of canakinumab in patients with colchicine-resistant familial Mediterranean fever: results from the randomised phase III CLUSTER trial.
Ozen S, Ben-Cherit E, Foeldvari I, Amarilyo G, Ozdogan H, Vanderschueren S, Marzan K, Kahlenberg JM, Dekker E, De Benedetti F, Koné-Paut I.
Ann Rheum Dis, 2020 Oct. 79(10):1362-1369. doi: 10.1136/annrheumdis-2020-217419. Epub 2020 Jun 22.

Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study.
Chasset F, Fayand A, Moguelet P, Kouby F, Bonhomme A, Franck N, Goldman-Lévy G, Fraitag S, Barbaud A, Queyrel V, Touitou I, Boursier G, Sarrabay G, Ducharme-Benard S, Dupin N, Francès C, Bessis D, Georgin-Lavialle S, Groupe d'étude des maladies systémiques en dermatologie and Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire..
J Am Acad Dermatol, 2020 Apr 10. pii: S0190-9622(20)30537-5. doi: 10.1016/j.jaad.2020.03.110. Epub 2020 Apr 10.

The French paediatric cohort of Castleman disease: a retrospective report of 23 patients.
Borocco C, Ballot-Schmit C, Ackermann O, Aladjidi N, Delaleu J, Giacobbi-Milet V, Jannier S, Jeziorski E, Maurier F, Perel Y, Piguet C, Oksenhendler E, Koné-Paut I, Galeotti C.
Orphanet J Rare Dis, 2020 Apr 17. 15(1):95. doi: 10.1186/s13023-020-1345-5. Epub 2020 Apr 17.

Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee.
Giancane G, Swart JF, Castagnola E, Groll AH, Horneff G, Huppertz HI, Lovell DJ, Wolfs T, Herlin T, Dolezalova P, Sanner H, Susic G, Sztajnbok F, Maritsi D, Constantin T, Vargova V, Sawhney S, Rygg M, K Oliveira S, Cattalini M, Bovis F, Bagnasco F, Pistorio A, Martini A, Wulffraat N, Ruperto N, Paediatric Rheumatology International Trials Organisation (PRINTO)..
Arthritis Res Ther, 2020 Apr 7. 22(1):71. doi: 10.1186/s13075-020-02167-2. Epub 2020 Apr 7.

Missed or delayed diagnosis of Kawasaki disease during the 2019 novel coronavirus disease (COVID-19) pandemic.
Harahsheh AS, Dahdah N, Newburger JW, Portman MA, Piram M, Tulloh R, McCrindle BW, de Ferranti SD, Cimaz R, Truong DT, Burns JC.
J Pediatr, 2020 Jul. doi: 10.1016/j.jpeds.2020.04.052. Epub 2020 May 3.

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I.
Clin Chem, 2020 Apr 1. 66(4):525-536. doi: 10.1093/clinchem/hvaa024.

PASS: a rare syndrome within the autoinflammatory diseases that still lacks a genetic marker.
Schwob E, Bessis D, Boursier G, Kottler D, Guillot B, Lerisson M, Girard C.
J Eur Acad Dermatol Venereol, 2020 Mar 25. doi: 10.1111/jdv.16385. Epub 2020 Mar 25.

Defining the risk of first intravenous immunoglobulin unresponsiveness in non-Asian patients with Kawasaki disease.
Piram M, Darce Bello M, Tellier S, Di Filippo S, Boralevi F, Madhi F, Meinzer U, Cimaz R, Piedvache C, Koné-Paut I.
Sci Rep, 2020 Feb 20. 10(1):3125. doi: 10.1038/s41598-020-59972-7. Epub 2020 Feb 20.

European consensus-based recommendations for the diagnosis and treatment of rare paediatric vasculitides - the SHARE initiative.
de Graeff N, Groot N, Brogan P, Ozen S, Avcin T, Bader-Meunier B, Dolezalova P, Feldman BM, Kone-Paut I, Lahdenne P, Marks SD, McCann L, Pilkington C, Ravelli A, van Royen A, Uziel Y, Vastert B, Wulffraat N, Kamphuis S, Beresford MW.
Rheumatology (Oxford), 2020 Apr 1. 59(4):919. doi: 10.1093/rheumatology/keaa057.