PW02-002 - Single MVK mutation and recurrent fevers

by Barron, K, Ombrello, A, Goldsmith, D, Aksentijevich, I, Jones, A, Kastner, D
Published 2013

OR10-001 - Altered mitochondrial ROS and metabolism in TRAPS

by Siegel, R, Billingham, L, pelletier, M, Cudrici, C, Ombrello, A, Murphy, M, Kastner, D
Published 2013

Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)

by Barron, K, Ombrello, A, Stone, D, Hoffmann, P, Aksentijevich, I, Zhou, Q, Jones, A, Kastner, D
Published 2015

Use of TNF inhibitors in the treatment of PAPA syndrome

by Stone, D, Ombrello, A, de Jesus, A Almeida, Hoffmann, P, Jones, A, Goldbach-Mansky, R, Barron, K, Kastner, D
Published 2015

OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes

by Zhou, Q, Zavialov, A, Chae, J, Hershfield, M, Sood, R, Burgess, S, Zavialov, A, Chin, D, Gadina, M, Goldbach-Mansky, R, Ombrello, A, Stone, D, Aksentijevich, I, Kastner, D
Published 2013

The deficiency of adenosine deaminase type 2-results of therapeutic intervention

by Ombrello, A, Stone, D, Hoffmann, P, Jones, A, Barham, B, Barron, K, Flegel, W, Sheldon, S, Zhou, Q, Hershfield, M, Aksentijevich, I, Kumar, P, Kastner, D
Published 2015

Immune dysregulation in patients with TRNT1 deficiency

by Giannelou, A, Zhou, Q, Stoffels, M, Stone, D, Ombrello, A, Barron, K, Su, H, Risma, K, Sramkova, L, Sediva, A, Joshi, S, Al Sonbul, A, Sun, H-W, Quezado, M, Gadina, M, Aksentijevich, I, Kastner, DL
Published 2015

A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein

by Zhou, Q, Wang, H, Chae, J, Yang, D, Demirkaya, E, Stoffels, M, Takeuchi, M, Chen, C, Ombrello, A, Schwartz, D, Hoffmann, P, Stone, D, Laxer, R, Royen-Kerkhof, AV, Ozen, S, Gadina, M, Kastner, D, Aksentijevich, I
Published 2015

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

by Holzinger, D, Lohse, P, Faßl, S, Austermann, J, Vogl, T, de Jager, W, Holland, S, Gattorno, M, Rodriguez-Gallego, C, Arostegui, J, Fessatou, S, Isidor, B, Ito, K, Epple, H-J, Bernstein, J, Jeng, M, Lionetti, G, Ong, P, Hinze, C, Sampson, B, Sunderkoetter, C, Foell, D, Chae, J, Ombrello, A, Brady, J, Aksentijevich, I, Roth, J
Published 2013