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Items: 30

1.

Early onset granulomatous arthritis, uveitis and skin rash: characterisation of skin involvement in Blau syndrome.

Poline J, Fogel O, Pajot C, Miceli-Richard C, Rybojad M, Galeotti C, Grouteau E, Hachulla E, Brissaud P, Cantagrel A, Mazereeuw Hautier J, Melki I, Petit A, Piram M, Sarrabay G, Wouters C, Vignon-Pennamen MD, Bourrat E, Meinzer U; French Society for Rheumatology and Inflammatory Diseases (SOFREMIP) and the Research Group of Pediatric Dermatology French Society (GRSFDP).

J Eur Acad Dermatol Venereol. 2019 Sep 21. doi: 10.1111/jdv.15963. [Epub ahead of print]

PMID:
31541486
2.

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity.

Boursier G, Hentgen V, Sarrabay G, Koné-Paut I, Touitou I.

J Pediatr. 2019 Jun;209:12-16.e1. doi: 10.1016/j.jpeds.2019.02.039. Epub 2019 Mar 27. No abstract available.

PMID:
30928144
3.

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. doi: 10.1684/ejd.2018.3427. No abstract available.

PMID:
30514670
4.

New data in causes of autoinflammatory diseases.

Kone-Paut I, Georgin-Laviallec S, Galeotti C, Rossi-Semerano L, Hentgen V, Savey L, Saadoun D, Sarrabay G, Touitou I.

Joint Bone Spine. 2019 Oct;86(5):554-561. doi: 10.1016/j.jbspin.2018.11.003. Epub 2018 Nov 22.

PMID:
30471422
5.

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. No abstract available.

PMID:
30430544
6.

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. No abstract available.

PMID:
30206351
7.

Mosaicism in autoinflammatory diseases: Cryopyrin-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.

PMID:
30035647
8.

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A 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.

PMID:
29890348
9.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G.

Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23.

10.

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy.

Viel S, Cheyssac E, Pescarmona R, Besson L, Till M, Viremouneix L, Touitou I, Sarrabay G, Walzer T, Belot A.

Ann Rheum Dis. 2018 Nov;77(11):1697-1698. doi: 10.1136/annrheumdis-2018-213300. Epub 2018 Apr 20. No abstract available.

PMID:
29678940
11.

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, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.

J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.

PMID:
29599418
12.

'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'.

Berteau F, Rouvière B, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C.

Ann Rheum Dis. 2019 May;78(5):e35. doi: 10.1136/annrheumdis-2018-213347. Epub 2018 Mar 16. No abstract available.

PMID:
29549169
13.

[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 Apr;39(4):256-264. doi: 10.1016/j.revmed.2018.02.002. Epub 2018 Mar 7. French.

PMID:
29525418
14.

[Clinical overview of auto-inflammatory diseases].

Georgin-Lavialle S, Rodrigues F, Hentgen V, Fayand A, Quartier P, Bader-Meunier B, Bachmeyer C, Savey L, Louvrier C, Sarrabay G, Melki I, Belot A, Koné-Paut I, Grateau G.

Rev Med Interne. 2018 Apr;39(4):214-232. doi: 10.1016/j.revmed.2018.01.004. Epub 2018 Feb 28. Review. French.

PMID:
29501512
15.

[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature].

Rodrigues F, Hentgen V, Bachmeyer C, Kone-Paut I, Belot A, Grateau G, Sarrabay G, Georgin-Lavialle S.

Rev Med Interne. 2018 Apr;39(4):279-286. doi: 10.1016/j.revmed.2018.02.003. Epub 2018 Feb 26. Review. French.

PMID:
29496273
16.

[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. 2018 Apr;39(4):297-306. doi: 10.1016/j.revmed.2017.11.006. Epub 2017 Dec 19. Review. French.

PMID:
29273180
17.

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Grandemange S, Cabasson S, Sarrabay G, Pène J, Rittore C, Sanchez E, Chastang MC, Guyon G, Pillet P, Touitou I.

Mol Genet Genomic Med. 2017 Jan 14;5(2):110-116. doi: 10.1002/mgg3.229. eCollection 2017 Mar.

18.

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. No abstract available.

PMID:
28134085
19.

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.

PMID:
27965258
20.

Criteria for CAPS, is it all in the name?

Touitou I, Sarrabay G.

Ann Rheum Dis. 2017 May;76(5):e9. doi: 10.1136/annrheumdis-2016-210681. Epub 2016 Nov 16. No abstract available.

PMID:
27852576
21.

[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. French.

PMID:
27659743
22.

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 Oct;24(10):1516. doi: 10.1038/ejhg.2016.96. No abstract available.

23.

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, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.

Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.

PMID:
27302555
24.

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

Uettwiller F, Sarrabay G, Rodero MP, Rice GI, Lagrue E, Marot Y, Deiva K, Touitou I, Crow YJ, Quartier P.

RMD Open. 2016 May 16;2(1):e000236. doi: 10.1136/rmdopen-2015-000236. eCollection 2016.

25.

Dominant familial Mediterranean fever.

Sarrabay G, Touitou I.

Rheumatology (Oxford). 2017 Feb;56(2):173-175. doi: 10.1093/rheumatology/kew203. Epub 2016 May 5. No abstract available.

PMID:
27150192
26.

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, Ahmadpour F, Touitou I, Fardaei M, Slim R.

Eur J Hum Genet. 2016 Oct;24(10):1445-52. doi: 10.1038/ejhg.2016.9. Epub 2016 Mar 9. Erratum in: Eur J Hum Genet. 2016 Oct;24(10 ):1516.

27.

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. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PMID:
26443184
28.

Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.

Sarrabay G, Touitou I.

Nat Rev Rheumatol. 2015 Oct;11(10):567-9. doi: 10.1038/nrrheum.2015.114. Epub 2015 Aug 18.

PMID:
26282081
29.

The autoinflammatory 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. Review.

PMID:
25998913
30.

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G, Grandemange S, Touitou I.

Expert Rev Clin Immunol. 2015;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15. Review.

PMID:
25979514

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