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Patrycja Hoffmann

National Human Genome Research Institute · US
Area of research
Immunology · Molecular Biology
Research interest
Research interests include Inflammasome and immune disorders, interferon and immune responses, Adenosine and Purinergic Signaling, and NF-κB Signaling Pathways.
h-index
27
citations
5,346
works
44
NIH funding
primary concept
Medicine
email

Recent publications

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
Nature Immunology 2024cited by 30position: middledoi
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis
Blood 2022cited by 177position: middledoi
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease
New England Journal of Medicine 2020cited by 1,122position: middledoi
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 2020cited by 47position: middledoi
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Nature 2019cited by 329position: middledoi
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Nature Genetics 2015cited by 622position: middledoi
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
New England Journal of Medicine 2014cited by 884position: middledoi

Grants

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Frequent collaborators

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