P02-019 - Detection of risk factors for AA-amyloidosis

por Németh, S, Obici, L, Grandemange, S, Lachmann, H, Oberkanins, C
Publicado 2013

Adult PFAPA - a single centre experience

por Donnelly, O, Youngstein, T, Pepper, R, Rowczenio, D, Hawkins, P, Lachmann, H
Publicado 2015

Calprotectin (S100A8/A9) in Familial Mediterranean Fever

por Pepper, R, Hutchinson, M, Henderson, S, Rowczenio, D, Hawkins, P, Lachmann, H
Publicado 2015

P02-015 - A novel MVK mutation in a child with AA amyloid

por Kolsky, A, Rowczenio, D, Lachmann, H, Vernerova, Z, Votava, F, Dolezalova, P
Publicado 2013

PReS-FINAL-2239: Renal AA amyloidosis in a child with hyper-IgD syndrome and a novel MVK mutation

por Fingerhutova, S, Kolsky, A, Rowczenio, D, Lachmann, H, Vernerova, Z, Votava, F, Dolezalova, P
Publicado 2013

First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene

por Rowczenio, D, Omoyinmi, E, Trojer, H, Lane, T, Brogan, P, Hawkins, P, Lachmann, H
Publicado 2015

Neurology of the Cryopyrin-Associated Periodic Feversyndrome

por Parker, T, Keddie, S, Kidd, D, Maviki, M, Lane, T, Hawkins, P, Ginsberg, L, Lachmann, H
Publicado 2015

Clinical symptoms and molecular investigations in 13 patients with Schnitzler syndrome identified at the single UK centre

por Rowczenio, D, Trojer, H, Baginska, A, Gillmore, J, Wechalekar, A, Hawkins, P, Lachmann, H
Publicado 2015

The Eurofever Project: towards the longitudinal stage

por Federici, S, Frenkel, J, Ozen, S, Finetti, M, Garibotto, F, Lachmann, H, Martini, A, Ruperto, N
Publicado 2015

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA

por Gomes, S Melo, Arostegui, J, Omoyinmi, E, Standing, A, Klein, N, Lachmann, H, Hawkins, P, Brogan, P
Publicado 2015

Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study

por Lachmann, H, Cattalini, M, Obici, L, Barcellona, R, Speziale, A, Joubert, Y, Junge, G, Gattorno, M
Publicado 2015

How experts on autoinflammatory diseases classify inherited periodic fevers: preliminary results of the Eurofever Delphi Survey

por Federici, S, Vanoni, F, Ozen, S, Frenkel, J, Lachmann, H, Martini, A, Ruperto, N, Hofer, M, Gattorno, M
Publicado 2015

How experts on Autoinflammatory diseases classify Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA): preliminary results of the Eurofever Delphi survey

por Vanoni, F, Federici, S, Ozen, S, Frenkel, J, Lachmann, H, Martini, A, Ruperto, N, Gattorno, M, Hofer, M
Publicado 2015

PW02-031 - Genetic and clinical manifestations of CAPS

por Bybee, AK, Lachmann, H, Omoyinmi, E, Nedjai, B, Woo, P, Lane, T, Savic, S, Hawkins, P, McDermott, M
Publicado 2013

The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant, TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is dist...

por Bybee, A, Negm, O, Abduljabbar, W, Fairclough, L, Lachmann, H, Lane, T, Todd, I, Hawkins, P, Tighe, P
Publicado 2015

PW03-030 – Collecting patients data to inform genetic studies

por Bybee, AK, Aslam, F, Majdoub, E, Rowczenio, D, Baginkska, A, Al-Nackkash, R, Taylor, W, Hawkins, P, Lachmann, H
Publicado 2013

Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and ge...

por Rowczenio, D, Iancu, D, Trojer, H, Gilbertson, J, Gillmore, J, Wechalekar, A, Tekman, M, Stanescu, H, Kleta, R, Lane, T, Hawkins, P, Lachmann, H
Publicado 2015

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

por Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P
Publicado 2015

Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

por Standing, A, Eleftheriou, D, Paisan-Ruiz, C, Rowcenzio, D, Hong, Y, Omoyinmi, E, Woo, P, Hawkins, P, Lachmann, H, Klein, N, Brogan, P
Publicado 2015

PReS-FINAL-2329: Validation of the autoinflammatory activity index (AIDAI)

por Piram, M, Kone-Paut, I, Lachmann, H, Ozen, S, Kuemmerle-Deschner, J, Stojanov, S, Simon, A, Finetti, M, Sormani, MP, Martini, A, Gattorno, M, Ruperto, N
Publicado 2013