Description of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation

por Pinto-Patarroyo, G, Kastner, D
Publicado 2015

Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

por Park, YH, Kastner, D, Chae, JJ
Publicado 2015

Cofilin-1 is an essential redox sensor for NLRP3 inflammasome activation

por Park, YH, Kastner, D, Chae, JJ
Publicado 2015

PW02-002 - Single MVK mutation and recurrent fevers

por Barron, K, Ombrello, A, Goldsmith, D, Aksentijevich, I, Jones, A, Kastner, D
Publicado 2013

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

por Ombrello, M, Remmers, E, Zeggini, E, Thomson, W, Kastner, D, Woo, P
Publicado 2015

Factors influencing the length of hospital stay of patients with anorexia nervosa – results of a prospective multi-center study

por Kästner, D., Löwe, B., Weigel, A., Osen, B., Voderholzer, U., Gumz, A.
Publicado 2018

PW03-013 - Behçet's disease: genotype-phenotype correlations

por Takeuchi, M, Kawagoe, T, Meguro, A, Ishigatsubo, Y, Remmers, E, Kastner, D, Mizuki, N
Publicado 2013

Identification of pyrin targets by CHiP-Seq

por Wood, G, Kanno, Y, Sun, H, Gutierrez-Cruz, G, Aksentijevich, I, Kastner, D
Publicado 2015

OR10-001 - Altered mitochondrial ROS and metabolism in TRAPS

por Siegel, R, Billingham, L, pelletier, M, Cudrici, C, Ombrello, A, Murphy, M, Kastner, D
Publicado 2013

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

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

Use of TNF inhibitors in the treatment of PAPA syndrome

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

CECR1 p.Gly47Arg mutations are not increased in frequency in Turkish Behçet's disease patients compared with healthy controls

por Erer, B, Remmers, E, Takeuchi, M, Ustek, D, Tugal-Tutkun, I, Seyahi, E, Ozyazgan, Y, Gul, A, Ombrello, M, Kastner, D
Publicado 2015

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

por 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
Publicado 2015

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

por 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
Publicado 2013

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

por 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
Publicado 2015