Patrycja Hoffmann

National Human Genome Research Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index5.2kcitations44works16.22yr avg
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Research Topics

Inflammasome and immune disorders(14), interferon and immune responses(9), Adenosine and Purinergic Signaling(6), NF-κB Signaling Pathways(5), Liver Disease Diagnosis and Treatment(4)

Publications44 total

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2
2025Open Access
1282: HEPATOSPLENIC INVOLVEMENT AND RESPONSE TO ANTI-TUMOR NECROSIS FACTOR (ANTI-TNF) THERAPY IN DEFICIENCY OF ADENOSINE DEAMINASE 2 (DADA2): A LONGITUDINAL COHORT STUDY
Gastroenterology·2025
A unified metric of human immune health
Nature Medicine·2024· 40 citedOpen Access
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
Nature Immunology·2024· 27 citedOpen Access
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne
Annals of the Rheumatic Diseases·2024· 14 citedOpen Access
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency
Neurology Neuroimmunology & Neuroinflammation·2023· 7 citedOpen Access
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis
Blood·2022· 165 citedOpen Access
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
Frontiers in Immunology·2022· 82 citedOpen Access
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)
Journal of Allergy and Clinical Immunology·2021· 49 cited
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in <i>UBA1</i>
Blood Advances·2021· 223 citedOpen Access
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes
Journal of Leukocyte Biology·2021· 40 cited
Next generation sequencing panel screening of 320 patients with clinically unclassified systemic autoinflammatory diseases
Molecular Genetics and Metabolism·2021
Somatic Mutations in <i>UBA1</i> Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS
Arthritis & Rheumatology·2021· 228 cited
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
Annals of the Rheumatic Diseases·2021· 22 citedOpen Access
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
UNC Libraries·2020· 46 citedOpen Access
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease
New England Journal of Medicine·2020· 1.1k citedOpen Access
Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i>
Arthritis & Rheumatology·2020· 47 citedOpen Access
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
Journal of Clinical Immunology·2020· 40 citedOpen Access
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Nature Immunology·2020· 147 citedOpen Access
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Nature·2019· 316 citedOpen Access
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Frequent Co-authors

Amanda K. Ombrello(33), Daniel L. Kastner(29), Ivona Aksentijevich(28), Deborah L. Stone(23), Karyl S. Barron(15), Anne Jones(15), Natalie Deuitch(12), Massimo Gadina(12), Wanxia Li Tsai(11), Natalia Sampaio Moura(10), David B. Beck(9), Tina Romeo(9), Jae Jin Chae(8), Qing Zhou(8), Katherine R. Calvo(7), Oskar Schnappauf(7), Sofia Rosenzweig(6), James C. Mullikin(6), Neal S. Young(6), Sergio D. Rosenzweig(6)