Author

C. N. Gruber

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Immunology· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:genome assembly· 1 Research Focus:host-pathogen & immune response· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

D. Bogunovic· 2 shared S. Buta· 2 shared A. Bousfiha· 1 shared B. D. Webb· 1 shared B. Gelb· 1 shared B. R. Rosenberg· 1 shared D. Dunkin· 1 shared E. M. Mace· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersImmunology

D. Bogunovic

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Author profile →

2 papers

Recent·Most cited

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Transcriptional and Biochemical Function

C. N. Gruber, J. Calis, S. Buta, G. Evrony, J. C. Martin, S. Uhl, R. Caron, L. Jarchin, D. Dunkin, R. Phelps, B. D. Webb, J. Saland, M. Merad, J. Orange, E. M. Mace, , D. Bogunovic

This study identifies a JAK1 mutation causing autoinflammation and shows its unique transcriptional and functional effects through single-cell analysis and clinical treatment.

Immunity · Sep 1, 2020Peer-reviewedImmunology

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

C. N. Gruber, M. Martin-Fernandez, F. Ailal, X. Qiu, J. Taft, J. Altman, J. Rosain, S. Buta, A. Bousfiha, J.-L. Casanova, J. Bustamante, D. Bogunovic

The paper identifies a homozygous STAT2 mutation causing type I interferonopathy by disrupting USP18 interaction and signal termination.

bioRxiv · Dec 12, 2019Immunology