NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

por Aksentijevich, Ivona, Zhou, Qing
Publicado 2017

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

por Meyts, Isabelle, Aksentijevich, Ivona
Publicado 2018

Current and future advances in genetic testing in systemic autoinflammatory diseases

por Schnappauf, Oskar, Aksentijevich, Ivona
Publicado 2019

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease

por Beck, David B., Aksentijevich, Ivona
Publicado 2019

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives

por Cudrici, Cornelia, Deuitch, Natalie, Aksentijevich, Ivona
Publicado 2020

Editorial: Autoinflammatory Diseases: From Genes to Bedside

por Aksentijevich, Ivona, Soriano, Alessandra, Hernández-Rodríguez, José
Publicado 2020

RIPK1-Associated Inborn Errors of Innate Immunity

por Zhang, Jiahui, Jin, Taijie, Aksentijevich, Ivona, Zhou, Qing
Publicado 2021

The Pyrin Inflammasome in Health and Disease

por Schnappauf, Oskar, Chae, Jae Jin, Kastner, Daniel L., Aksentijevich, Ivona
Publicado 2019

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond

por Demirkaya, Erkan, Sahin, Sezgin, Romano, Micol, Zhou, Qing, Aksentijevich, Ivona
Publicado 2020

Disorders of ubiquitylation: unchained inflammation

por Beck, David B., Werner, Achim, Kastner, Daniel L., Aksentijevich, Ivona
Publicado 2022

Current State of Precision Medicine in Primary Systemic Vasculitides

por Demirkaya, Erkan, Arici, Zehra Serap, Romano, Micol, Berard, Roberta Audrey, Aksentijevich, Ivona
Publicado 2019

Clinical presentations and molecular basis of complement C1R mutation in a large turkish family

por Demirkaya, Erkan, Kasapcopur, Ozgur, Barut, Kenan, Caliskan, Salim, Polat, Adem, Onen, Yesim, Aksentijevich, Ivona
Publicado 2014

Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)

por Chen, Daniel, Li, Zhongwen, Liu, Yangtengyu, Sampaio, Natalia, Yang, Dan, Aksentijevich, Ivona, Boehm, Manfred, Chen, Guibin
Publicado 2020

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

por Nomani, Hafsa, Deng, Zuoming, Navetta-Modrov, Brianne, Yang, Jie, Yun, Mark, Aroniadis, Olga, Gorevic, Peter, Aksentijevich, Ivona, Yao, Qingping
Publicado 2023

Long-term efficacy of etanercept in ADA2 deficiency

por Caorsi, Roberta, Omenetti, Alessia, Picco, Paolo, Buoncompagni, Antonella, Minoia, Francesca, Federici, Silvia, Finetti, Martina, Martini, Alberto, Aksentijevich, Ivona, Gattorno, Marco
Publicado 2014

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

por Springer, Jason Michael, Gierer, Selina A., Jiang, Hong, Kleiner, David, Deuitch, Natalie, Ombrello, Amanda K., Grayson, Peter C., Aksentijevich, Ivona
Publicado 2018

The use of leukocytes’ secretome to individually target biological therapy in autoimmune arthritis: a case report

por Poubelle, Patrice E., Pagé, Nathalie, Longchamps, Marie-Pier, Sampaio Moura, Natalia, Beck, David B., Aksentijevich, Ivona, Tessier, Philippe A., Pelletier, Martin
Publicado 2019

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

por Smith, Elisabeth J, Allantaz, Florence, Bennett, Lynda, Zhang, Dongping, Gao, Xiaochong, Wood, Geryl, Kastner, Daniel L, Punaro, Marilynn, Aksentijevich, Ivona, Pascual, Virginia, Wise, Carol A
Publicado 2010

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

por Izawa, Kazushi, Hijikata, Atsushi, Tanaka, Naoko, Kawai, Tomoki, Saito, Megumu K, Goldbach-Mansky, Raphaela, Aksentijevich, Ivona, Yasumi, Takahiro, Nakahata, Tatsutoshi, Heike, Toshio, Nishikomori, Ryuta, Ohara, Osamu
Publicado 2012

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

por Aksentijevich, Ivona, Zhou, Qing, Giannelou, Angeliki, Sediva, Anna, Stone, Deborah, Rosenzweig, Sergio, Edwan, Jehad, Pelletier, Martin, Monique, Stoffels, Šrámková, Lucie, Ombrello, Amanda, Barron, Karyl, Kastner, Daniel
Publicado 2014