Autoinflammatory diseases unit
French National referral centre
Biology-Pathology research pole - University Hospital of Montpellier

   

 
  Presentation The AIDs The Team Diagnosis Research Publications Websites offers
 

Publications
Since 1998

 

In press

Current practices for the genetic diagnosis of autoinflammatory diseases: Results of a European Molecular Genetics Quality Network Survey
Dorota Rowczenio, Yael Shinar, Isabella Ceccherini, Katie Sheils, Marielle Van Gijn, Simon J Patton, Isabelle Touitou
EUR J HUM GENET - 2019

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

 

2019

Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno1* MD, Michael Hofer2, 3* MD, Silvia Federici4 MD, PhD, Federica Vanoni5 MD, Francesca Bovis6 MSc, PhD, Ivona Aksentijevich7 MD, Jordi Anton8 MD, PhD, Juan Ignacio Arostegui9 MD, Karyl S. Barron10 MD, Eldad Ben-Chetrit11 MD, Paul Brogan12 MD, Luca Cantarini13 MD, Isabella Ceccherini14 PhD, Fabrizio De Benedetti15 MD, Fatma Dedeoglu16 MD, Erkan Demirkaya17 MD, Joost Frenkel18 MD, Raphaela Goldbach-Mansky19 MD, Ahmet Gul20 MD, Veronique Hentgen21 MD, Hal M. Hoffman22 MD, Tilmann Kallinich23 MD, Isabelle Koné-Paut24 MD, Jasmin Kuemmerle-Deschner25 MD, Helen J. Lachmann26 MD, Ronald Laxer27 MD, Avi Livneh 28 MD, Laura Obici29 MD, Seza Ozen30 MD, Dorota Rowczenio26 MD, Ricardo Russo31 MD, Yael Shinar28 MD, Anna Simon32 MD, Natasa Toplak33 MD, Isabelle Touitou34 MD, Yosef Uziel35 MD, Marielle van Gijn36 PhD, Dirk Foell37 MD, Claudia Garassino4, MD, Daniel L. Kastner10, Alberto Martini39 MD, Maria Pia Sormani6, 40, PhD, Nicolino Ruperto41 MD, MPH, for the Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO).
Ann Rheum Dis. 2019 Apr 24. pii: annrheumdis-2019-215048. doi: 10.1136/annrheumdis-2019-215048

The changing concepts regarding the Mediterranean fever gene (MEFV): towards a spectrum of pyrin-associated autoinflammatory diseases (PAAD) with variable heredity
G Boursier, V Hentgen, G Sarrabay, I Koné-Paut, I Touitou
J Pediatr. 2019 Mar 27. pii: S0022-3476(19)30271-9. doi: 10.1016/j.jpeds.2019.02.039

Comment on: Familial Mediterranean fever: breaking all the (genetic) rules.
Touitou I
Rheumatology (Oxford). 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 Jan 16;

 

2018

Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation
Martin H, Bursztejn AC, Cuny JF, Sarrabay G, Schmutz JL, Touitou I, Wahl D, Bonhomme A
Eur J Dermatol. 2018 Dec 1;28(6):847-848

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation
Gabeff R, Safar R, Leducq S, Maruani A, Sarrabay G, Touitou I, Samimi M
Int J Dermatol. 2019 Jan;58(1):e16-e17. doi: 10.1111/ijd.14293. Epub 2018 Nov 14

New data in causes of autoinflammatory diseases.
Koné-Paut I, Lavialle SG, Galeotti C, Rossi-Semerano L, Hentgen V, Savey L, Saadoun D, Sarrabay G, Touitou I.
Joint Bone Spine. 2018 Nov 21. pii: S1297-319X(18)30426-3. doi: 10.1016/j.jbspin.2018.11.003. [Epub ahead of print]

Reply to Sönmez et al
Rama M, Touitou I, Sarrabay G
Eur J Hum Genet. 2018 Nov;26(11):1564-1565. doi: 10.1038/s41431-018-0242-z. Epub 2018 Sep 11.

Consensus proposal for Taxonomy and Definition of the Autoinflammatory Diseases (AIDs) - A Delphi Study
Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants.
Ann Rheum Dis. 2018 Nov;77(11):1558-1565. doi: 10.1136/annrheumdis-2017-212515. Epub 2018 Aug 12. Review.

Mosaicism in autoinflammatory diseases: cryopyrine-associated periodic syndromes (CAPS) and beyond. A systematic review.
Labrousse M, Kevorkian-Verguet C, Boursier G, Rowczenio D, Maurier F, Lazaro E, Aggarwal M, Lemelle I, Mura T, Belot A, Touitou I, Sarrabay G.
Crit Rev Clin Lab Sci. 2018 Sep;55(6):432-442. doi: 10.1080/10408363.2018.1488805. Epub 2018 Jul 23.

The use of interleukin 1 receptor antagonist (anakinra) in Kawasaki disease: A retrospective cases series
Isabelle Koné-Paut; Rolando Cimaz; Jethro Herberg; Oliver Bates; Aurelia Carbasse; Jean Pierre Saulnier; Maria Cristina Maggio; Jordi Anton; Maryam Piram.
Autoimmun Rev. 2018 Jun 6. pii: S1568-9972(18)30135-6

Autosomic dominant familial Behçet disease and Haploinsufficiency A20: a French family with three cases of a new TNFAIP3 mutation and review of the literature
Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C.
Autoimmun Rev. 2018 Aug;17(8):809-815. doi: 10.1016/j.autrev.2018.02.012. Epub 2018 Jun 8. Review.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience"
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie VALENCE, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin Lavialle, Alexandre Belot, Isabelle Koné Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou and Guillaume Sarrabay
Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23.

Large deletion in 6p associated to A20 haploinsufficiency and heterotaxy
Sébastien Viel, Elodie Cheyssac, Rémi Pescarmona, Laurie Besson, Marianne Till, Loïc Viremouneix, Isabelle Touitou, Guillaume Sarabay, Thierry Walzer and Alexandre Belot
Ann Rheum Dis. 2018 Nov;77(11):1697-1698. doi: 10.1136/annrheumdis-2018-213300. Epub 2018 Apr 20.

Response to "A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease"
Berteau Florian, Rouvière Bénédicte, Nau Alice, Le Berre Rozenn, Sarrabay Guillaume, Touitou Isabelle, de Moreuil Claire
Ann Rheum Dis. 2018 Mar 16

A new workflow for classification of genetic variants pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic AutoInflammatory Diseases (INSAID)
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyinmi; E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.
J Med Genet. 2018 Mar 29. pii: jmedgenet-2017-105216. doi: 10.1136/jmedgenet-2017-105216.

Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art
Georgin-Lavialle S, Kone-Paut I, Delaleu J, Sarrabay G, Grateau G, Touitou I, Hentgen V.
Rev Med Interne. 2018 Mar 7

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G.
Clin Genet. 2018 Mar 25.

Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts
Bilade Cherqaoui, Linda Rossi-Semerano, Sophie Georgin-Lavialle, Perrine Dusser, Caroline Galeotti, Maryam Piram, Véronique Hentgen, Isabelle Touitou, Isabelle Koné-Paut
Joint Bone Spine. 2018 Feb 13. pii: S1297-319X(18)30013-7. doi: 10.1016/j.jbspin.2018.01.010

Les maladies auto-inflammatoires associées aux mutations de NLRC4 :revue systématique de la littérature.
NLRC4 associated autoinflammatory diseases: A systematic review of the currentliterature

F. Rodrigues, V. Hentgen, C. Bachmeyera, I. Kone-Paut, A. Belot, G. Grateau, G. Sarrabay, S. Georgin-Lavialle
Rev Med Interne. 2018 Feb 26. pii: S0248-8663(18)30039-0. doi: 10.1016/j.revmed.2018.02.003.

Clinical overview of auto-inflammatory diseases
Sophie Georgin-Lavialle, François Rodrigues, Véronique Hentgen, Antoine Fayand, Pierre Quartier, Brigitte Bader-Meunier, Claude Bachmeyer, Camille Louvrier, Guillaume Sarrabay, Alexandre Belot, Isabelle Kone-Paut, Gilles Grateau
Rev Med Interne. 2018 Apr;39(4):214-232. doi: 10.1016/j.revmed.2018.01.004.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R.
Mod Pathol. 2018 Jul;31(7):1116-1130. doi: 10.1038/s41379-018-0031-9. Epub 2018 Feb 20.

 

2017

Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature]
Fayand A, Sarrabay G, Belot A, Hentgen V, Kone-Paut I, Grateau G, Melki I, Georgin-Lavialle S
Rev Med Interne. 2017 Dec 19. pii: S0248-8663(17)31178-5.

TMEM187-IRAK1 polymorphisms associated with rheumatoid arthritis susceptibility in Tunisian and French female populations: influence of geographic origin
Khalifa O, Balandraud N, Lambert N, Auger I, Roudier J, Sénéchal A, Geneviève D, Picard C, Lefranc G, Touitou I, Mrenda BM, Benedito C, Pardoux E, Gagez AL, Pers YM, Jorgensen C, Mahjoub T, Apparailly F
J Immunol Res. 2017;2017:4915950. doi: 10.1155/2017/4915950.

How to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for autoinflammatory diseases
Touitou I, Milhavet F, Hentgen V, Koné-Paut I
Joint Bone Spine. 2017 Mar;84(2):125-128. doi: 10.1016/j.jbspin.2016.11.008. Epub 2016 Dec 2

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Le Qang Sang KH, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D.
Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18.

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype
Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, Elodie Sanchez Marie-Caroline Chastang, Gaël Guyon, Pascal Pillet, Isabelle Touitou
Mol Genet Genomic Med. 2017 Jan 14;5(2):110-116. doi: 10.1002/mgg3.229. eCollection 2017 Mar.

Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.
Murarasu A, Dodé C, Sarrabay G, Klein I, Papo T, Sacré K
Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):128-129. Epub 2017 Jan 26.

 

2016

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis.
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D
Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13.

Criteria for CAPS, is it all in the name?
Touitou I, Sarrabay G
Ann Rheum Dis. 2016 Nov 16. pii: annrheumdis-2016-210681. doi: 10.1136/annrheumdis-2016-210681

Mevalonate kinase deficiency in 2016.
Galeotti C, Georgin-Lavialle S, Sarrabay G, Touitou I, Koné-Paut I
Rev Med Interne. 2018 Apr;39(4):265-270. doi: 10.1016/j.revmed.2016.08.019. Epub 2016 Sep 19.

Typical Facial Gestalt in X-Linked Kabuki Syndrome
Margot H, Geneviève D, Gatinois V, Arveiler B, Moutton S, Touitou I, Lacombe D.
Am J Med Genet A. 2016 Aug 2

ADA2 deficiency: new phenotype and new mutation in 2 sisters
Uettwiller F, Sarrabay G, Rodero MP, Rice GI, Lagrue E, Marot Y, Deiva K, Touitou I, Crow YJ, Quartier P
RMD Open. 2016;2(1):e000236.

Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Sang KL, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Donato ND, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Hum Mutat. 2016 Jun 15. doi: 10.1002

Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.
Pers YM, Le Blay P, Ludwig C, Rittore C, Tejedor G, Foliwe R, Rodiere M, Jorgensen C, Touitou I.
Joint Bone Spine. 2016 Jun 28;. [Epub ahead of print]

Dominant FMF, an unusual inheritance in unusual populations
Sarrabay G, Touitou I
Rheumatology (Oxford). 2016 May 5. pii: kew203. [Epub ahead of print]

The genomic architecture of NLRP7 is Alu rich and predisposes to disease associated large deletions
Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Touitou I, Fardaei M, Slim R.
Eur J Hum Genet. 2016 Mar 9. doi: 10.1038/ejhg.2016.9. [Epub ahead of print]

Observational study of a French and Belgian multicenter cohort of 23 patients diagnosed in adulthood with mevalonate kinase deficiency
Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, Acquaviva-Bourdain C, Hachulla E, Lecomte F, Touitou I, Ninet J, Philit JB, Messer L, Brouillard M, Girard-Madoux MH, Moutschen M, Raison-Peyron N, Hutin P, Duffau P, Trolliet P, Hatron PY, Heudier P, Cevallos R, Lequerré T, Brousse V, Lesire V, Audia S, Maucort-Boulch D, Cuisset L, Hot A
Medicine (Baltimore). 2016 Mar;95(11):e3027. doi: 10.1097

 

2015

Mutation update for COL2A1 gene variants associated with type II collagenopathies
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.
Hum Mutat. 2015 Oct 7;. [Epub ahead of print]

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.
Barat-Houari M, Baujat G, Tran Mau Them F, Fabre A, Geneviève D, Touitou I.
Am J Med Genet A. 2015 Sep 11. doi: 10.1002/ajmg.a.37374. [Epub ahead of print]

Autoinflammation: Management of hereditary recurrent fevers-SHARE experience.
Sarrabay G, Touitou I.
Nat Rev Rheumatol. 2015 Aug 18. doi: 10.1038/nrrheum.2015.114. [Epub ahead of print]

Musculoskeletal Symptoms in Patients with Cryopyrin-Associated Periodic Syndromes: Large Database Study
Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Le Rosey-Grall M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V
Arthritis Rheumatol. 2015 Aug 5;. [Epub ahead of print]

More on Sweet's syndrome in patients with MDS and MEFV mutations.
Koné-Paut I, Hentgen V, Touitou I for CeRéMAI, the French Reference Center for autoinflammatory diseases
N Engl J Med. 2015 May 14;372(20):1970. doi: 10.1056/NEJMc1503146#SA1

The auto-inflammatory diseases: a fashion with blurred boundaries!
Sarrabay G, Barat-Houari M, Annakib S, Touitou I.
Semin Immunopathol. 2015 Jul;37(4):359-62. doi: 10.1007/s00281-015-0495-3. Epub 2015 May 22

Diagnosis of cryopyrin associated periodic syndrome: Challenges, recommendations and emerging concepts
Sarrabay G, Grandemange S, Touitou I.
Expert Rev Clin Immunol. 2015 Jul;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15print]

Kabuki syndrome: Update and review
Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, Geneviève D.
Arch Pediatr. 2015 Apr 28. pii: S0929-693X(15)00111-6. doi: 10.1016/j.arcped.2015.03.020. [Epub ahead of print]

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 Jan 30. pii: annrheumdis-2014-206580. doi: 10.1136/annrheumdis-2014-206580. [Epub ahead of print]

 

2014

The phenotype of TNF-receptor associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the EUROFEVER/EUROTRAPS international registry
H.J. Lachmann, R. Papa, K. Minden, L. Obici, I Touitou, L Cantarini, J. Frenkel, J. Anton, I. Kone-Paut, M. Cattalini, B. Bader-Meunier, A. Insalaco, V. Hentgen, R. Merino, C. Modesto, N. Toplak, R. Berendes, S. Ozen, R. Cimaz, A. Jansson, P. Brogan, P.N. Hawkins, N. Ruperto, A. Martini, P. Woo, and M. Gattorno for the Paediatric Rheumatology International Trials Organisation (PRINTO), the Eurotraps and the Eurofever Project
Ann Rheum Dis. 2014 Dec;73(12):2160-7. doi: 10.1136/annrheumdis-2013-204184. Epub 2013 Aug 21.

Treatment of Erdheim-Chester disease with canakinumab.
Tran TA, Pariente D, Guitton C, Delwail A, Barat-Houari M, Meinzer U.
Rheumatology (Oxford). 2014 Dec;53(12):2312-4

CUGC for prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)
Martina Witsch-Baumgartner and Isabelle Touitou
Eur J Hum Genet. 2014 Nov 19;. [Epub ahead of print]

Discordant sex in monozygotic XXY/XX twins: a case report.
Tachon G, Lefort G, Puechberty J, Schneider A, Jeandel C, Boulot P, Prodhomme O, Meyer P, Taviaux S, Touitou I, Pellestor F, Geneviève D, Gatinois V.
Hum Reprod. 2014 Oct 21. pii: deu275. [Epub ahead of print]

Adult Onset Stills Disease (AOSD) in the era of biologic therapies: dichotomous view for cytokine and clinical expressions
Maria A, Le Quellec A, Jorgensen C, Touitou I, Rivière S, Guilpain P.
Autoimmun Rev. 2014 Aug 27. pii: S1568-9972(14)00176-1. doi: 10.1016/j.autrev.2014.08.032. [Epub ahead of print] Review.

Infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis
Touitou I, Milhavet F, Cuisset L.
J Dermatol Sci. 2014 Sep;75(3):208-9. doi: 10.1016/j.jdermsci.2014.06.002

Circulating miRNA-125b is a potential biomarker predicting response to rituximab in rheumatoid arthritis
Isabelle Duroux-Richard, Yves-Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique L. P. Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jorgensen and Florence Apparailly
Mediators Inflamm. 2014;2014:342524.

International PFAPA syndrome cohort: description of distinct phenotypes in 301 patients
M. Hofer, P. Pillet, M. Cochard, S. Berg, P. Krol, I. Kone-Paut, D. Rigante,V. Hentgen, J.Anton, R. Brik, B. Neven, I.Touitou, D. Kaiser, A. Duquesne, C. Wouters, M. Gattorno.
Rheumatology.2014 Feb 6

TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA.
Pers YM, Cadart D, Rittore C, Ravel P, Daïen V, Fabre S, Jorgensen C, Touitou I.
Joint Bone Spine. 2014 Jan 22. pii: S1297-319X(13)00291-1. doi: 10.1016/j.jbspin.2013.12.005. [Epub ahead of print]

 

2013

Dysspondyloenchondromatosis without COL2A1 mutation: Possible Genetic Heterogeneity
Tran Mau-Them F, Boualam A, Barat-Houari M, Jeandel C, Cottalorda J, Cormier-Daire V, Fabre A, Dumont B, Lefort G, Baujat G, Le Merrer M, Jorgensen C, Touitou I, Geneviève D.
Am J Med Genet A. 2013 Dec 19. doi: 10.1002/ajmg.a.36331. [Epub ahead of print]

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria
Brahami N, Aribi M, Sari BE, Khau Van Kien P, Touitou I, Lefranc G, Barat-Houari M.
Genet Res Int. 2013;2013:784789. doi: 10.1155/2013/784789. Epub 2013 Dec 9.

Intermittent Neutropenia as an Early Feature of Mild Mevalonate Kinase Deficiency.
Parvaneh N, Ziaee V, Moradinejad MH, Touitou I.
J Clin Immunol. 2013 Nov 1. [Epub ahead of print]

The expanding spectrum of rare monogenic autoinflammatory diseases.
Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Koné-Paut I.
Orphanet J Rare Dis. 2013 Oct 16;8(1):162.

Association Analysis of IL10, TNF-a, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria.
Khaib Dit Naib O, Aribi M, Idder A, Chiali A, Sairi H, Touitou I, Lefranc G, Barat-Houari M.
Front Immunol. 2013 Oct 21;4:342. doi: 10.3389/fimmu.2013.00342.

Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E.
Semin Arthritis Rheum. 2013 Jun 3. [Epub ahead of print]

Diagnostic Dilemma for the Autoinflammatory Disease in two patients: does the name matter?
Gulhan B, Buyukcam A, Touitou I, Ozen S.
Turk J Pediatr. 2013 May-Jun;55(3):315-8.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D.
Eur J Hum Genet. 2013 May 15. doi: 10.1038/ejhg.2013.113. [Epub ahead of print]

Identification of a novel exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-Associated Periodic Syndrome (TRAPS) gene.
Rittore C, Sanchez E, Soler S, Barat-Houari M, Albers M, Obici L, McDermott MF, Touitou I, Grandemange S.
Ann Rheum Dis. 2013 Mar 16. [Epub ahead of print]

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
Touitou I
J Med Genet. 2013 Mar 27;. [Epub ahead of print]

 

2012

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R.
Eur J Hum Genet. 2012 Dec 12;. [Epub ahead of print]

New genetic interpretation of old diseases.
Touitou I
Autoimmun Rev. 2012 Nov;12(1):5-9. doi: 10.1016/j.autrev.2012.07.014. Epub 2012 Aug 2.

Blau Arteritis Resembling Takayasu Disease with a Novel NOD2 Mutation.
Khubchandani RP, Hasija R, Touitou I, Khemani C, Wouters CH, Rose CD.
J Rheumatol. 2012 Sep;39(9):1888-92. doi: 10.3899/jrheum.120156. Epub 2012 Aug 1.

NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients: NLRP7 and Sporadic Mole.
Landolsi H, Rittore C, Philibert L, Hmissa S, Gribaa M, Touitou I, Yacoubi MT
Arch Pathol Lab Med. 2012 Jun;136(6):646-51.

Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I.
Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1.

SNPs in the TNF-a gene promoter associated with Behcet's disease in Moroccan patients.
Radouane A, Oudghiri M, Chakib A, Bennani S, Touitou I, Barat-Houari M.
Rheumatology (Oxford). 2012 Sep;51(9):1595-9.

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Ter Haar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C, Kone-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.
Ann Rheum Dis. 2012 Jul;71(7):1177-82

Kimura's disease and Behcet's syndrome in the same family - are they associated?
Ben-Chetrit E, Touitou I, Fellig Y, Barat-Houari M.
Joint Bone Spine. 2012 Jun 29

The impact of MEFV gene identification on familial Mediterranean fever: an appraisal after 15 years
Ben-Chetrit E, Touitou I.
Clin Exp Rheumatol. 2012 May-Jun;30(3 Suppl 72):S3-6. Epub 2012 Sep 25

An International registry on Autoinflammatory diseases: the Eurofever experience.
Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Koné-Paut I, De Benedetti F, Neven B, Hofer M, Dolezalova P, Kümmerle-Deschner J, Touitou I, Hentgen V, Simon A, Girschick H, Rose C, Wouters C, Vesely R, Arostegui J, Stojanov S, Ozgodan H, Martini A, Ruperto N, Gattorno M.
Ann Rheum Dis. 2012 Jul;71(7):1177-82. Epub 2012 Feb 29.

 

2011

The regulation of MEFV expression and its role in health and familial Mediterranean fever.
Grandemange S, Aksentijevich I, Jeru I, Gul A, Touitou I.
Genes Immun. 2011 Oct;12(7):497-503. doi: 10.1038/gene.2011.53. Epub 2011 Jul 21.

Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.
Landolsi H, Rittore C, Philibert L, Missaoui N, Hmissa S, Touitou I, Gribaa M, Yacoubi MT.
Int J Gynecol Pathol. 2011 Jul;30(4):348-53.

Mevalonate kinase deficiency: a survey of 50 patients.
Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, Richer O, Farber CM, Fischbach M, Hentgen V, Jego P, Laroche C, Neven B, Lequerré T, Mathian A, Pellier I, Touitou I, Rabier D, Prieur AM, Cuisset L, Quartier P; SOFREMIP (Société Francophone pour la Rhumatologie et les Maladies Inflammatoires en Pédiatrie); CRI (Club Rhumatismes et Inflammations).
Pediatrics. 2011 Jul;128(1):e152-9. Epub 2011 Jun 27.

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.
Messaed C, Chebaro W, Di Roberto RB, Rittore C, Cheung A, Arseneau J, Schneider A, Chen MF, Bernishke K, Surti U, Hoffner L, Sauthier P, Buckett W, Qian J, Lau NM, Bagga R, Engert JC, Coullin P, Touitou I, Slim R; H M Collaborative Group.
J Med Genet. 2011 Aug;48(8):540-8. Epub 2011 Jun 9.

The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.
Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I.
Eur J Obstet Gynecol Reprod Biol. 2011 Aug;157(2):197-9. Epub 2011 Mar 25.

TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis.
Daïen CI, Fabre S, Rittore C, Soler S, Daïen V, Tejedor G, Cadart D, Molinari N, Daurès JP, Jorgensen C, Touitou I.
Joint Bone Spine. 2012 Oct;79(5):471-5. doi: 10.1016/j.jbspin.2011.10.007. Epub 2011 Nov 29.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG.
Am J Hum Genet. 2011 Sep 9;89(3):451-8. doi: 10.1016/j.ajhg.2011.08.002. Epub 2011 Sep 1.

Current data on familial Mediterranean fever.
Koné-Paut I, Hentgen V, Touitou I
Joint Bone Spine. 2011 Mar;78(2):111-4. Epub 2010 Nov 11.

 

2010

Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
Pallares-Ruiz N, Philibert L, Dumont B, Fabre A, Cuisset L, Cointin E, Rittore C, Soler S, Touitou I.
PLoS One. 2010 Nov 23;5(11):e14096.

A comparison of restriction fragment length polymorphism, tetra primer amplification refractory mutation system PCR and unlabeled probe melting analysis for LTA+252 C>T SNP genotyping.
Soler S, Rittore C, Touitou I, Philibert L.
Clin Chim Acta. 2011 Feb 20;412(5-6):430-4. Epub 2010 Nov 19.

[Review: Repetitive hydatidiform moles].
Muhlstein J, Golfier F, Frappart L, Poulizac G, Abel F, Touitou I, Hajri T, Raudrant D.
Gynecol Obstet Fertil. 2010 Nov;38(11):672-6. Epub 2010 Oct 20.

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
Barat-Houari M, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C, Khau Van Kien P, Thorel D, Tuffery-Giraud S, Vasseur F, Attarian S, Pouget J, Girardet A, Lévy N, Claustres M.
Eur J Hum Genet. 2010 May;18(5):533-8

Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population
Vasseur F, Caeyseele T, Barat-Houari M, Lobbens S, Meirhaeghe A, Meyre D, Froguel P, Amouyel P, Helbecque N.
J Hum Genet. 2010 Apr;55(4):227-31

 

2009

Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.
Grandemange S, Soler S, Touitou I.
Hum Mol Genet. 2009 Dec 15;18(24):4746-55. Epub 2009 Sep 15.

The clinical spectrum of 94 patients carrying a single mutated MEFV allele.
Koné-Paut I, Hentgen V, Guillaume-Czitrom S, Compeyrot-Lacassagne S, Tran TA, Touitou I.
Rheumatology (Oxford). 2009 Jul;48(7):840-2. Epub 2009 May 22.

Web resources for rare auto-inflammatory diseases: towards a common patient registry.
Touitou I, Hentgen V, Koné-Paut I; French Reference Centre for Auto-Inflammatory Diseases.
Rheumatology (Oxford). 2009 Jun;48(6):665-9. Epub 2009 Mar 25.

Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene.
Notarnicola C, Boizet-Bonhoure B, de Santa Barbara P, Osta MA, Cattan D, Touitou I.
Genes Immun. 2009 Apr;10(3):273-9. Epub 2009 Mar 5.

The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.
Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V, Kindle G; ESID Registry Working Party.
Clin Exp Immunol. 2009 Sep;157 Suppl 1:3-11.

Familial mediterranean Fever in the world.
Ben-Chetrit E, Touitou I.
Arthritis Rheum. 2009 Oct 15;61(10):1447-53.

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.
Touitou I, Rittore C, Philibert L, Yagüe J, Shinar Y, Aksentijevich I.
Eur J Hum Genet. 2009 Jul;17(7):890-6. Epub 2009 Jan 28.

A patient with periodic fever syndrome: a 20-year delay in diagnosis.
Ben-Chetrit E, Touitou I.
Scand J Rheumatol. 2009 Jan-Feb;38(1):71-3.

 

2008

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I.
Eur J Hum Genet. 2008 Nov;16(11):1404-6. Epub 2008 Jul 23.

Fifth International Congress on Familial Mediterranean Fever and Systemic Autoinflammatory Diseases.
Touitou I, Savic S, Mathews RJ, Grateau G, McDermott MF.
Expert Rev Clin Immunol. 2008 Jul;4(4):425-8.

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, et al.
Arthritis Rheum. 2008 Jun;58(6):1823-32.

The infevers autoinflammatory mutation online registry: update with new genes and functions.
Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I.
Hum Mutat. 2008 Jun;29(6):803-8.

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, Simon A; International HIDS Study Group.
Medicine (Baltimore). 2008 Nov;87(6):301-10

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.
Puechberty J, Rittore C, Philibert L, Lefort G, Burlet G, Bénos P, Reyftmann L, Sarda P, Touitou I.
Clin Genet. 2009 Mar;75(3):298-300. Epub 2008 Nov 20.

Autoinflammatory diseases.
Touitou I, Koné-Paut I.
Best Pract Res Clin Rheumatol. 2008 Oct;22(5):811-29.

Autoinflammatory syndromes and infections: pathogenetic and clinical implications.
Efthimiou P, Flavell RA, Furlan A, Gasbarrini G, Gava A, Koné-Paut I, Manna R, Punzi L, Sutterwala FS, Touitou I, Doria A.
Clin Exp Rheumatol. 2008 Jan-Feb;26(1 Suppl 48):S53-61

Herpes-virus infection in patients with Langerhans cell histiocytosis: a case-controlled sero-epidemiological study, and in situ analysis.
Jeziorski E, Senechal B, Molina TJ, Devez F, Leruez-Ville M, Morand P, Glorion C, Mansuy L, Gaudelus J, Debre M, Jaubert F, Seigneurin JM, Thomas C, Joab I, Donadieu J, Geissmann F.
PLoS One. 2008 Sep 23;3(9):e3262.

KI and WU polyomaviruses in children, France
Foulongne V, Brieu N, Jeziorski E, Chatain A, Rodière M, Segondy M
Emerg Infect Dis. 2008 Mar;14(3):523-5.

 

2007

Transmission of familial Mediterranean fever mutations following bone marrow transplantation.
Touitou I, Dumont B, Pourtein M, Perelman S, Sirvent A, Soler C.
Clin Genet. 2007 Aug;72(2):162-3.

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.
Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalçinkaya F, Ozen S, Majeed H, Ozdogan H, Kastner D, Booth D, Ben-Chetrit E, Pugnère D, Michelon C, Séguret F, Gershoni-Baruch R; International Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever.
Arthritis Rheum. 2007 May;56(5):1706-12.

[The child with fever in pyrins time].
Koné-Paut I, Hentgen V, Guillaume S, Touitou I.
Arch Pediatr. 2007 Jun;14(6):652-5. Epub 2007 Apr 24.

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.
Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N.
Semin Arthritis Rheum. 2007 Jun;36(6):397-401. Epub 2007 Feb 5.

ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.
Chassaing N, Touitou I, Cattan D, Calvas P.
J Genet. 2007 Dec;86(3):293-5.

Autoinflammatory gene mutations in Behçet's disease.
Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I.
Ann Rheum Dis. 2007 Jun;66(6):832-4. Epub 2007 Jan 9.

Expansion of regulatory T cells in patients with Langerhans cell histiocytosis.
Senechal B, Elain G, Jeziorski E, Grondin V, Patey-Mariaud de Serre N, Jaubert F, Beldjord K, Lellouch A, Glorion C, Zerah M, Mary P, Barkaoui M, Emile JF, Boccon-Gibod L, Josset P, Debré M, Fischer A, Donadieu J, Geissmann F
PLoS Med. 2007 Aug;4(8):e253.

Impact of a CART promoter genetic variation on plasma lipid profile in a general population
Vasseur F, Guérardel A, Barat-Houari M, Cottel D, Amouyel P, Froguel P, Helbecque N.
Mol Genet Metab. 2007 Feb;90(2):199-204

 

2006

A molecular basis for the absence of familial Mediterranean fever in Ethiopian Jews.
Rozenbaum M, Touitou I, Portnoy E, Morkos S, Rosner I.
Clin Exp Rheumatol. 2006 Sep-Oct;24(5 Suppl 42):S127.

A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.
Federici L, Rittore-Domingo C, Koné-Paut I, Jorgensen C, Rodière M, Le Quellec A, Touitou I.
Ann Rheum Dis. 2006 Nov;65(11):1427-32. Epub 2006 May 17.

Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations.
Touitou I, Perez C, Dumont B, Federici L, Jorgensen C.
Ann Rheum Dis. 2006 Nov;65(11):1530-1.

Autoinflammatory syndromes.
Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, Podswiadek M, Punzi L, Sebastiani GD, Touitou I, Doria A.
Clin Exp Rheumatol. 2006 Jan-Feb;24(1 Suppl 40):S79-85.

 

2004

Infevers: an evolving mutation database for auto-inflammatory syndromes.
Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthiere C.
Hum Mutat. 2004 Sep;24(3):194-8.

Diagnostic value of MEFV gene analysis in familial Mediterranean fever must still be assessed in non-classically affected populations: comment on the article by Cazeneuve et al.
Touitou I.
Arthritis Rheum. 2004 Apr;50(4):1354-5; author reply 1355-6.

Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Touitou I, Notarnicola C, Grandemange S.
Am J Pharmacogenomics. 2004;4(2):109-18.

FMF revisited.
Manna R, La Regina M, Nucera G, Gasbarrini G, Touitou I.
Eur J Hum Genet. 2004 Mar;12(3):255.

 

2003

Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever.
Touitou I, Ben-Chetrit E, Gershoni-Baruch R, Grateau G, Kastner DL, Kone-Paut I, Livneh A, Manna R, Mansour I, Ozdogan H, Ozen S, Sarkisian T, Tunca M, Yalcinkaya F.
Blood. 2003 Jul 1;102(1):409.

Should patients with FMF undergo BMT?
Touitou I.
Blood. 2003 Feb 1;101(3):1205; author reply 1205-6.

Standardized testing for mutations in familial Mediterranean fever.
Touitou I.
Clin Chem. 2003 Nov;49(11):1781-2.

Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis.
Molinari N, Koné Paut I, Manna R, Demaille J, Daures JP, Touitou I.
Am J Med Genet A. 2003 Oct 1;122A(2):115-8.

Familial Mediterranean fever is no longer a rare disease in Italy.
La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C, Kone-Paut I, Touitou I, Manna R.
Eur J Hum Genet. 2003 Jan;11(1):50-6.

The MetaFMF website: a high quality tool for meta-analysis of FMF.
Pugnère D, Ruiz M, Sarrauste de Menthière C, Masdoua B, Demaille J, Touitou I.
Nucleic Acids Res. 2003 Jan 1;31(1):286-90.

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.
Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou I.
Nucleic Acids Res. 2003 Jan 1;31(1):282-5.

MEFV sequence variants and amyloidosis: still an enigmatic question.
Altiok O, Séguret F, Touitou I.
Hum Mutat. 2003 Jan;21(1):96-7.

 

2002

[Genetic diagnosis of periodic diseases (familial mediterranean fever or FMF)].
Touitou I.
Pathol Biol (Paris). 2002 Jul;50(6):357-60.

Paediatric Behçet's disease in France.
Koné-Paut I, Gorchakoff-Molinas A, Weschler B, Touitou I.
Ann Rheum Dis. 2002 Jul;61(7):655-6.

Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever.
Notarnicola C, Didelot MN, Seguret F, Demaille J, Touitou I.
Genes Immun. 2002 Feb;3(1):43-5.

Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever.
Notarnicola C, Didelot MN, Koné-Paut I, Seguret F, Demaille J, Touitou I.
Arthritis Rheum. 2002 Oct;46(10):2785-93.

 

2001

The spectrum of Familial Mediterranean Fever (FMF) mutations.
Touitou I.
Eur J Hum Genet. 2001 Jul;9(7):473-83.

MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.
Cattan D, Dervichian M, Thomas M, Dode C, Touitou I.
Isr Med Assoc J. 2001 Nov;3(11):803-4.

Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).
Notarnicola C, Manna R, Rey JM, Touitou I.
Hum Mutat. 2001;17(1):79.

The MICA region determines the first modifier locus in familial Mediterranean fever.
Touitou I, Picot MC, Domingo C, Notarnicola C, Cattan D, Demaille J, Koné-Paut I.
Arthritis Rheum. 2001 Jan;44(1):163-9.

 

2000

MEFV mutations in Behçet's disease.
Touitou I, Magne X, Molinari N, Navarro A, Quellec AL, Picco P, Seri M, Ozen S, Bakkaloglu A, Karaduman A, Garnier JM, Demaille J, Koné-Paut I.
Hum Mutat. 2000 Sep;16(3):271-2.

Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity.
Domingo C, Touitou I, Bayou A, Ozen S, Notarnicola C, Dewalle M, Demaille J, Buades R, Sayadat C, Levy M, Ben-Chetrit E.
Eur J Hum Genet. 2000 Apr;8(4):242-6.

Familial Mediterranean Fever in a cold climate: read The Lancet.
Stewart L, Tolmie J, Galea P, Touitou I.
Lancet. 2000 Dec 23-30;356(9248):2154.

Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features.
Koné Paut I, Dubuc M, Sportouch J, Minodier P, Garnier JM, Touitou I.
Rheumatology (Oxford). 2000 Nov;39(11):1275-9.

Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever.
Cattan D, Notarnicola C, Molinari N, Touitou I.
Lancet. 2000 Jan 29;355(9201):378-9.

 

1999

[Molecular diagnosis of periodic disease].
Touitou I.
Gastroenterol Clin Biol. 1999 May;23(5):589-90.

Familial aggregation in Behçet's disease: high frequency in siblings and parents of pediatric probands.
Koné-Paut I, Geisler I, Wechsler B, Ozen S, Ozdogan H, Rozenbaum M, Touitou I.
J Pediatr. 1999 Jul;135(1):89-93.

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever].
Cazeneuve C, Dode C, Delpech M, Touitou I, Grateau G, Amselem S.
Ann Genet. 1999;42(4):241-5.

 

1998

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I.
Hum Mol Genet. 1998 Aug;7(8):1317-25.

[Genetic diagnosis of periodic disease].
Touitou I.
Rev Med Interne. 1998 Jul;19(7):486-91.

Familial Mediterranean fever clinical and genetic features in Druzes and in Iraqi Jews: a preliminary study.
Touitou I, Ben-Chetrit E, Notarnicola C, Domingo C, Dewalle M, Dross C, Dupont M, Demaille J, Rosner I, Rozenbaum M.
J Rheumatol. 1998 May;25(5):916-9.

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M, Rosner I, Demaille J, Touitou I.
Eur J Hum Genet. 1998 Jan;6(1):95-7.