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I. Aksentijevich · SciRah

Researcher profile · Semantic Scholar

I. Aksentijevich

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I. Aksentijevich — researcher profile on SciRah

h-index: 74
Works: 232
Citations: 27K

Most-cited papers

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
D. Beck, M. Ferrada, K. Sikora, A. Ombrello +58 more
2020New England Journal of Medicine924 citations Open access
Semantic Scholar
Classification criteria for autoinflammatory recurrent fevers
M. Gattorno, M. Hofer, S. Federici, F. Vanoni +39 more
2019Annals of the Rheumatic Diseases487 citations Open access
Semantic Scholar
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
I. Meyts, I. Aksentijevich
2018Journal of Clinical Immunology342 citations Open access
Semantic Scholar
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
K. Manthiram, Qing Zhou, I. Aksentijevich, D. Kastner
2017Nature Immunology336 citations
Semantic Scholar
The Pyrin Inflammasome in Health and Disease
O. Schnappauf, J. Chae, D. Kastner, I. Aksentijevich
2019Frontiers in Immunology314 citations Open access
Semantic Scholar
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
N. Lalaoui, Steven E. Boyden, H. Oda, G. Wood +50 more
2019Nature287 citations Open access
Semantic Scholar
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1
P. Tao, Jin-Qiao Sun, Zhe-Ming Wu, Shi-Hao Wang +32 more
2019Nature240 citations
Semantic Scholar
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study
R. Caorsi, F. Penco, A. Grossi, A. Insalaco +27 more
2017Annals of the Rheumatic Diseases229 citations Open access
Semantic Scholar
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
F. Aeschlimann, E. Batu, S. Canna, E. Go +10 more
2018Annals of the Rheumatic Diseases201 citations Open access
Semantic Scholar
NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases
I. Aksentijevich, Qing Zhou
2017Frontiers in Immunology196 citations Open access
Semantic Scholar
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS
M. Ferrada, K. Sikora, Yi-Ming Luo, K. Wells +31 more
2021Arthritis & Rheumatology195 citations Open access
Semantic Scholar
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
A. Brehm, Yin Liu, Afzal Sheikh, B. Marrero +39 more
2016Journal of Clinical Investigation150 citations Open access
Semantic Scholar
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
C. Carmona-Rivera, Sami S. Khaznadar, K. Shwin, Jorge A. Irizarry-Caro +10 more
2019Blood147 citations Open access
Semantic Scholar
Treatment Strategies for Deficiency of Adenosine Deaminase 2
A. Ombrello, Jing Qin, Patrycja Hoffmann, Parag Kumar +17 more
2019New England Journal of Medicine147 citations Open access
Semantic Scholar
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
H. Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, J. Chae +18 more
2017Proceedings of the National Academy of Sciences of the United States of America146 citations Open access
Semantic Scholar
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Y. Park, E. Remmers, Wonyong Lee, A. Ombrello +20 more
2020Nature Immunology128 citations Open access
Semantic Scholar
Human TBK1 Deficiency Leads to Autoinflammation Driven by TNF-Induced Cell Death
Justin Taft, M. Markson, Diana Legarda, Roosheel S. Patel +22 more
2021Cell124 citations Open access
Semantic Scholar
New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond
E. Demirkaya, S. Şahin, M. Romano, Qing Zhou +1 more
2020Journal of Clinical Medicine117 citations Open access
Semantic Scholar
Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells
Yuliia Kaljas, Chengqian Liu, Maksym Skaldin, Cheng-Xiang Wu +4 more
2017Cellular and Molecular Life Sciences114 citations Open access
Semantic Scholar
Disorders of ubiquitylation: unchained inflammation
D. Beck, Achim Werner, D. Kastner, I. Aksentijevich
2022Nature Reviews Rheumatology108 citations Open access
Semantic Scholar
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome
Pragnesh Mistry, C. Carmona-Rivera, A. Ombrello, Patrycja Hoffmann +11 more
2018Annals of the Rheumatic Diseases98 citations Open access
Semantic Scholar
Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate
Jack A. Bibby, Harriet A. Purvis, T. Hayday, Anita Chandra +8 more
2020Nature Communications90 citations Open access
Semantic Scholar
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives
C. Cudrici, Natalie T. Deuitch, I. Aksentijevich
2020International Journal of Molecular Sciences87 citations Open access
Semantic Scholar
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Pui Y. Lee, B. Davidson, R. Abraham, B. Alter +37 more
2023JAMA Network Open74 citations Open access
Semantic Scholar
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
K. Barron, I. Aksentijevich, N. Deuitch, D. Stone +27 more
2022Frontiers in Immunology74 citations Open access
Semantic Scholar
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC
H. Oda, D. Beck, H. Kuehn, Natalia Sampaio Moura +10 more
2019Frontiers in Immunology66 citations Open access
Semantic Scholar
Deficiency of adenosine deaminase 2 (DADA2) in Adults and Children: Experience from India
Aman Sharma, G. Naidu, Vikas Sharma, S. Jha +38 more
2020Arthritis & Rheumatology65 citations Open access
Semantic Scholar
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases
I. Aksentijevich, O. Schnappauf
2021Nature Reviews Rheumatology63 citations
Semantic Scholar
Human adenosine deaminase 2 deficiency: A multi‐faceted inborn error of immunity
Leen Moens, M. Hershfield, K. Arts, I. Aksentijevich +1 more
2019Immunological Reviews63 citations
Semantic Scholar
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
C. Kozycki, Shilpa Kodati, Laryssa A. Huryn, Hongying Wang +66 more
2022Annals of the Rheumatic Diseases62 citations Open access
Semantic Scholar
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
A. Spaan, Anna-Lena Neehus, E. Laplantine, F. Staels +58 more
2022Science61 citations Open access
Semantic Scholar
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Y. Shinar, I. Ceccherini, D. Rowczenio, I. Aksentijevich +20 more
2020Clinical Chemistry60 citations Open access
Semantic Scholar
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
A. Giannelou, Hongying Wang, Qing Zhou, Y. Park +45 more
2018Annals of the Rheumatic Diseases57 citations Open access
Semantic Scholar
A unified metric of human immune health
Rachel Sparks, Nick Rachmaninoff, William W. Lau, D. Hirsch +45 more
2024Nature Medicine50 citations Open access
Semantic Scholar
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences
J. Springer, S. Gierer, Hong Jiang, D. Kleiner +4 more
2018Frontiers in Immunology50 citations Open access
Semantic Scholar
Susceptibility to severe COVID-19
D. Beck, I. Aksentijevich
2020Science47 citations
Semantic Scholar
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach
Hyuk-Joon Jee, Zheng-Ping Huang, S. Baxter, Yuelong Huang +12 more
2021Journal of Allergy and Clinical Immunology46 citations Open access
Semantic Scholar
TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
N. Deuitch, Dan Yang, Pui Y. Lee, Xiao-Min Yu +28 more
2021Journal of Allergy and Clinical Immunology46 citations
Semantic Scholar
Lessons from characterization and treatment of the inflammatory syndromes
I. Aksentijevich, M. McDermott
2017Current Opinion in Rheumatology46 citations Open access
Semantic Scholar
Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)
Pui Y. Lee, I. Aksentijevich, Qing Zhou
2022Seminars in Immunopathology44 citations
Semantic Scholar
Deficiency of Complement 1r subcomponent in early-onset SLE: Role for disease-modifying alleles in a monogenic disease
E. Demirkaya, Qing Zhou, Carolyne Smith, M. Ombrello +20 more
2017Arthritis & Rheumatology43 citations Open access
Semantic Scholar
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
D. Beck, Mohammed A. Basar, A. Asmar, Joyce J. Thompson +28 more
2021Science Advances41 citations Open access
Semantic Scholar
Current and future advances in genetic testing in systemic autoinflammatory diseases
O. Schnappauf, I. Aksentijevich
2019Rheumatology40 citations Open access
Semantic Scholar
A type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20
D. Schwartz, Sarah A. Blackstone, Natalia Sampaio-Moura, Sofia Rosenzweig +11 more
2019Annals of the Rheumatic Diseases39 citations Open access
Semantic Scholar
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
C. Franco-Jarava, Hongying Wang, A. Martín-Nalda, de la Sierra Daniel Alvarez +10 more
2018Clinical Immunology37 citations
Semantic Scholar
The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience
M. Kostik, R. Raupov, E. Suspitsin, E. Isupova +13 more
2022Frontiers in Pediatrics36 citations Open access
Semantic Scholar
Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in PSTPIP1
D. Stone, A. Ombrello, J. Aróstegui, C. Schneider +10 more
2021medRxiv36 citations Open access
Semantic Scholar
Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance
O. Schnappauf, Qing Zhou, N. S. Moura, A. Ombrello +18 more
2020Journal of Clinical Immunology35 citations Open access
Semantic Scholar
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2
O. Schnappauf, N. S. Moura, I. Aksentijevich, M. Stoffels +25 more
2020Arthritis & Rheumatology34 citations Open access
Semantic Scholar
Case report: Novel variants in RELA associated with familial Behcet’s-like disease
Jason W. An, Pallavi Pimpale-Chavan, D. Stone, M. Bandeira +11 more
2023Frontiers in Immunology32 citations Open access
Semantic Scholar

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