In press

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

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

 

2021 Voir une autre année ?

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D.
Eur J Hum Genet, 2021 Nov 22. doi: 10.1038/s41431-021-00994-8. Epub 2021 Nov 22.
PubMed

When extended genetics rescues diagnosis: a patient with CANDLE-like phenotype and de novo mutation in the SAMD9L gene.
Remy A, Borocco C, Sarrabay G, Boursier G, Fraitag S, Catteau B, Reumaux H, Koné-Paut I.
Ann Rheum Dis, 2021 Nov 30. pii: annrheumdis-2021-221486. doi: 10.1136/annrheumdis-2021-221486. Epub 2021 Nov 30.
PubMed

Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.
Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, Lacombe V, Terriou L, Ardois S, Bouaziz JD, Mathian A, Le Guenno G, Aouba A, Outh R, Meyer A, Roux-Sauvat M, Ebbo M, Zhao LP, Bigot A, Jamilloux Y, Guillotin V, Flamarion E, Henneton P, Vial G, Jachiet V, Rossignol J, Vinzio S, Weitten T, Vinit J, Deligny C, Humbert S, Samson M, Magy-Bertrand N, Moulinet T, Bourguiba R, Hanslik T, Bachmeyer C, Sebert M, Kostine M, Bienvenu B, Biscay P, Liozon E, Sailler L, Chasset F, Audemard-Verger A, Duroyon E, Sarrabay G, Borlot F, Dieval C, Cluzeau T, Marianetti P, Lobbes H, Boursier G, Gerfaud-Valentin M, Jeannel J, Servettaz A, Audia S, Larue M, Henriot B, Faucher B, Graveleau J, de Sainte Marie B, Galland J, Bouillet L, Arnaud C, Ades L, Carrat F, Hirsch P, Fenaux P, Fain O, Sujobert P, Kosmider O, Mekinian A, French VEXAS group., GFEV, GFM, CEREMAIA, MINHEMON..
Br J Dermatol, 2021 Oct 10. doi: 10.1111/bjd.20805. Epub 2021 Oct 10.
PubMed

DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.
Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, Dupin N, Franck N, Cohen P, Bessis D, Guenno GL, Koné-Paut I, Belot A, Bonhomme A, Ducharme-Bénard S, Grateau G, Sarrabay G, Touitou I, Boursier G, Georgin-Lavialle S.
Semin Arthritis Rheum, 2021 Sep 16. 51(6):1170-1179. doi: 10.1016/j.semarthrit.2021.09.001. Epub 2021 Sep 16.
PubMed

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

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

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

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