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

por Aksentijevich, I
Publicado 2013

PW02-001 - Exome sequencing for autoinflammatory disorders

por Boyden, SE, Zhou, Q, Aksentijevich, I, Kastner, DL
Publicado 2013

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

por Zhou, Q, Sleiman, R, Kastner, DL, Aksentijevich, I
Publicado 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...

por Richard, G, Lauricella, C, Xu, Z, Aksentijevich, I
Publicado 2015

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

por Zhou, Q, Ombrello, AK, Chin, D, Kastner, DL, Aksentijevich, I
Publicado 2013

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome

por Boyadzhiev, M., Marinov, L., Boyadzhiev, V., Iotova, V., Aksentijevich, I., Hambleton, S.
Publicado 2019

PW02-002 - Single MVK mutation and recurrent fevers

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

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

por Stoffels, M, Zhou, Q, Chen, C, Aksentijevich, I, Kastner, DL, Merkel, PA
Publicado 2015

OR7-001 – By chip pyrin binds the IRF2 promoter

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

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

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

Identification of pyrin targets by CHiP-Seq

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

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

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

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

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

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

por 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
Publicado 2011

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

por 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
Publicado 2013

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

B cells characterization in ADA2 Deficiency patients

por 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
Publicado 2015

Immune dysregulation in patients with TRNT1 deficiency

por 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
Publicado 2015

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