PReS13-SPK-1321: Expanding clinical spectrum of autoinflammatory diseases

by Aksentijevich, I
Published 2013

P02-023 - NLRP3 mosaicism as a cause of late-onset CAPS

by Zhou, Q, Ombrello, AK, Chin, D, Kastner, DL, Aksentijevich, I
Published 2013

PW02-001 - Exome sequencing for autoinflammatory disorders

by Boyden, SE, Zhou, Q, Aksentijevich, I, Kastner, DL
Published 2013

P02-003 - HIDS in a consanguineous family form Saudi Arabia?

by Zhou, Q, Sleiman, R, Kastner, DL, Aksentijevich, I
Published 2013

NextGen sequencing (NGS) panel for hereditary recurrent fevers: mutation spectrum, novel mutations, and evidence for re-classification of common variants based on analysis of >3000...

by Richard, G, Lauricella, C, Xu, Z, Aksentijevich, I
Published 2015

OR7-001 – By chip pyrin binds the IRF2 promoter

by Wood, G, Kanno, Y, Balow, J, Sun, H-W, Aksentijevich, I, Kastner, DL
Published 2013

PW02-002 - Single MVK mutation and recurrent fevers

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

Update on CECR1 molecular diagnostics: new mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohort

by Stoffels, M, Zhou, Q, Chen, C, Aksentijevich, I, Kastner, DL, Merkel, PA
Published 2015

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

A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations

by Batu, ED, Karadag, O, Taskiran, EZ, Kalyoncu, U, Aksentijevich, I, Alikasifoglu, M, Ozen, S
Published 2015

Identification of pyrin targets by CHiP-Seq

by Wood, G, Kanno, Y, Sun, H, Gutierrez-Cruz, G, Aksentijevich, I, Kastner, D
Published 2015

Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencing

by Izawa, K, Nishikomori, R, Tanikaze, N, Saito, MK, Goldbach-Mansky, R, Aksentijevich, I, Yasumi, T, Kawai, T, Nakahata, T, Heike, T, Ohara, O
Published 2011

A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome

by Holzinger, D, Austermann, J, Lohse, P, Aksentijevich, I, Holland, S, Gattorno, M, Rodríguez-Gallego, C, Fessatou, S, Isidor, B, Tokio, S, Bernstein, J, Sampson, B, Sunderkoetter, C, Roth, J
Published 2011

OR9-001 - Exome sequencing in monogenic Behçet-like disease

by Zhou, Q, Laxer, R, Pelletier, M, Ramaswamy, M, Wang, H-Y, Chin, D, Gül, A, Sibley, C, Barat-Houari, M, Siegel, R, Kastner, DL, Aksentijevich, I
Published 2013

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

B cells characterization in ADA2 Deficiency patients

by Schena, F, Volpi, S, Caorsi, R, Pastorino, C, Penco, F, Kalli, F, Omenetti, A, Chiesa, S, Bertoni, A, Picco, P, Filaci, G, Aksentijevich, I, Grossi, A, Ceccherini, I, Martini, A, Traggiai, E, Gattorno, M
Published 2015

Guidelines for the genetic diagnosis of hereditary recurrent fevers

by Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I
Published 2012