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

Comment favoriser une mise en réseau efficace des équipes travaillant dans le domaine des maladies rares ? Expérience du Centre de Référence des Maladies Auto-Inflammatoires CeRéMAI
I Touitou, V Hentgen, F Milhavet, I Kone-Paut
REV RHUM - 2017

Test de validation fonctionnelle des variants de NLRP3 responsables de CAPS.
Marie Guirguis, Vanessa Remy Piccolo, Marine Groslambert, Isabelle Détraz-Durieux, Agnès Duquesne, Guillaume Sarrabay, Isabelle Touitou, Alexandre Belot, Bénédicte Py.
ARCH PEDIATRIE (Paris) - 2016

2017

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.

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 Mar 14. doi: 10.1111/cge.13010. [Epub ahead of print]

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 Jan 26. [Epub ahead of print]

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. 2016 Dec 13. pii: annrheumdis-2016-210021. doi: 10.1136/annrheumdis-2016-210021. [Epub ahead of print]

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. 2016 Dec 2. pii: S1297-319X(16)30214-7. doi: 10.1016/j.jbspin.2016.11.008. [Epub ahead of print]

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

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
F.Uettwiller, G. Sarrabay, M. Rodero, G.Rice, Y.Marot, K.Deiva, I.Touitou, P.Quartier, Y.Crow
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.

Dominant FMF, an unusual inheritance in unusual populations
Sarrabay G, Touitou I
Rheumatology (Oxford). 2016 May 5. pii: kew203.

The genomic architecture of NLRP7 is Alu rich and predisposes to disease associated large deletions
Ramesh Reddy, Ngoc Minh Phuong Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra Celina Gallegos Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Ebtesam Abdalla, Kristin Paulyson Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin Elisabeth Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Isabelle Touitou, Majid Fardaei, Rima Slim.
Eur J Hum Genet. 2016 Mar 9. doi: 10.1038/ejhg.2016.9.

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.

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.

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

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.

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.

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.

 

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.

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.

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.

Infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis
Touitou I, Milhavet F, Cuisset L.
Journal of Dermatological Science 75 (2014) 208-9.

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.

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. 2013 Aug 21. doi: 10.1136/annrheumdis-2013-204184.

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.

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.
013 May 15. doi: 10.1038/ejhg.2013.113.

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.

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
Touitou I
J Med Genet. 2013 Mar 27.

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. doi: 10.1093/rheumatology/kes141. Epub 2012 Jun 17.

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.

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

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.

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.