Researcher profile · Semantic Scholar

N. Deuitch

h-index: 14
Works: 25
Citations: 1,232

Most-cited papers

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
Qing Zhou, Xiao-Min Yu, E. Demirkaya, N. Deuitch +23 more
2016Proceedings of the National Academy of Sciences of the United States of America247 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
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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
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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
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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
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Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment
Meiping Yu, Xi-Sheng Xu, Qing Zhou, N. Deuitch +1 more
2019World Journal of Pediatrics71 citations
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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
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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
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A unified metric of human immune health
Rachel Sparks, Nick Rachmaninoff, William W. Lau, D. Hirsch +45 more
2024Nature Medicine50 citations Open access
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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
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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
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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
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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
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Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
D. Schwartz, M. Kitakule, B. Dizon, Cristhian Gutierrez-Huerta +25 more
2021Annals of the Rheumatic Diseases17 citations Open access
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A Cohort Study on Deficiency of ADA2 from China
Guo-Ming Li, Xuming Han, Ye Wu, Wei Wang +39 more
2023Journal of Clinical Immunology9 citations Open access
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Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
Jia-Hui Zhang, P. Tao, N. Deuitch, Xiaomin Yu +2 more
2024Journal of Clinical Immunology5 citations
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TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency
A. Soldatos, Camilo Toro, Patrycja Hoffmann, T. Romeo +5 more
2023Neurology: Neuroimmunology & Neuroinflammation4 citations Open access
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Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings
Li Guo, Jun Wang, Xinghui Yang, Rong-Jun Zheng +3 more
2021Journal of Clinical Immunology3 citations Open access
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Covalent binding of thioredoxin to TXNIP is required for diet-induced insulin resistance in the liver
Sezin Dagdeviren, Megan F. Hoang, Jia-Lu Wang, Tamara Goldberger +17 more
2025Journal of Biological Chemistry2 citations Open access
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Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells
K. Manthiram, Qin Xu, Zhi-Jie Wu, Mary Bowes +34 more
2023Journal of Immunology2 citations Open access
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Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2
O. Schnappauf, Hongying Wang, Qing Zhou, Vasily Burlakov +15 more
2025Research Square1 citations
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eP340: Clinical and genetic features of a large cohort of individuals with autoinflammatory disease
N. Deuitch, Ryan S Laird, B. Matthíasardóttir, Hongying Wang +5 more
2022Genetics in Medicine1 citations Open access
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Human LUBAC deficiency leads to autoinflammation and immunodeficiency by dysregulation in TNF-mediated cell death
H. Oda, K. Manthiram, P. Chavan, S. Nakabo +33 more
2022medRxiv1 citations Open access
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Next generation sequencing panel screening of 320 patients with clinically unclassified systemic autoinflammatory diseases
O. Schnappauf, Hongying Wang, N. Deuitch, N. S. Moura +7 more
20210 citations
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Deficiency of Complement 1 r subcomponent in early-onset SLE : Role for disease-modifying alleles in a monogenic disease
E. Demirkaya, Qing Zhou, Carolyne Smith, M. Ombrello +28 more
20170 citations
Semantic Scholar

T. Romeo

×9

Qing Zhou×8

D. Stone×8

Hongying Wang×6

K. Barron×6

N. S. Moura×6

O. Schnappauf×6

E. Remmers×5