Raphaela Goldbach‐Mansky

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

76h-index27.8kcitations267works7.12yr avg
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Research Topics

Inflammasome and immune disorders(149), Autoimmune and Inflammatory Disorders Research(57), interferon and immune responses(38), IL-33, ST2, and ILC Pathways(37), Systemic Lupus Erythematosus Research(32)

Publications265 total

STING-STAT3-mediated endothelial-mesenchymal transition promotes pulmonary fibrosis in SAVI patients 9089
The Journal of Immunology·2025Open Access
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis
2025Open Access
Clemastine fumarate accelerates accumulation of disability in progressive multiple sclerosis by enhancing pyroptosis
Journal of Clinical Investigation·2025· 7 citedOpen Access
Early management of hemophagocytic lymphohistiocytosis/macrophage activation syndrome: a systematic literature review
EULAR Rheumatology Open·2025· 2 citedOpen Access
Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation
Journal of Human Immunity·2025Open Access
Validation of an Interferon Type I Score Test on the Nanostring nCounter Platform
Journal of Human Immunity·2025Open Access
Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus
Nature Reviews Rheumatology·2024· 21 cited
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress
Nature Communications·2024· 4 citedOpen Access
Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies
Journal of Clinical Immunology·2024· 18 citedOpen Access
Successful Management of Febrile Infection–Related Epilepsy Syndrome Using Cytokine-Directed Therapy
Journal of Child Neurology·2024· 3 cited
Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene
Stem Cell Research·2024Open Access
Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation
Stem Cell Research·2024Open Access
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies
JCI Insight·2024· 8 citedOpen Access
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
New England Journal of Medicine·2024· 65 citedOpen Access
Development of nitroalkene-based inhibitors to target STING-dependent inflammation
Redox Biology·2024· 12 citedOpen Access
Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS
Annals of the Rheumatic Diseases·2024· 4 citedOpen Access
Savvy About SAVI
American Journal of Respiratory and Critical Care Medicine·2024Open Access
Clemastine fumarate accelerates accumulation of disability in progressive multiple sclerosis by enhancing pyroptosis
2024· 8 citedOpen Access
Time for a new approach to drug development for rare systemic autoinflammatory diseases
Nature Reviews Rheumatology·2024· 5 cited
Inerferon signaling gene expression as a diagnostic biomarker
Molecular Genetics and Metabolism·2024
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Frequent Co-authors

Adriana A. de Jesus(13), Daniel L. Kastner(13), Ivona Aksentijevich(12), Hal M. Hoffman(8), Gina A. Montealegre Sanchez(7), Karyl S. Barron(7), Scott Canna(7), Hanna Kim(6), Deborah L. Stone(6), Dawn Chapelle(6), Dirk Foell(6), Massimo Gadina(6), Seza Özen(6), Yin Liu(6), Steven M. Holland(5), Bernadette Marrero(5), Chyi‐Chia Richard Lee(5), Angélique Biancotto(5), Suvimol Hill(5), Stephen R. Brooks(5)