31. 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 distinct from normal PBMCs and from other pathogenic variants. Issue 1 (December 2015) Authors: Bybee, A; Negm, O; Abduljabbar, W; Fairclough, L; Lachmann, H; Lane, T; Todd, I; Hawkins, P; Tighe, P Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
32. THU0509 Improvement of disease activity in patients with colchicine-resistant FMF, HIDS/MKD and traps assessed by autoinflammatory disease activity index (AIDAI): results from the cluster trial. (15th June 2017) Authors: Kone-Paut, I; Piram, M; Benseler, S; Hofer, M; Lachmann, H; Hoffman, HM; Gattorno, M; Frenkel, J; Kuemmerle-Deschner, JB; Ozen, S; Levy, J; Karyekar, CS; Benedetti, F De Journal: Annals of the rheumatic diseases Issue: Volume 76(2017)Supplement 2 Page Start: 398 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
33. Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA. Issue 1 (December 2015) Authors: Gomes, S; Arostegui, J; Omoyinmi, E; Standing, A; Klein, N; Lachmann, H; Hawkins, P; Brogan, P Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
34. Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA. Issue 1 (December 2015) Authors: Gomes, S; Arostegui, J; Omoyinmi, E; Standing, A; Klein, N; Lachmann, H; Hawkins, P; Brogan, P Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗