Author

I. K. Chinn

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· 3

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:cell type annotation· 2 Research Focus:development & morphogenesis· 2 Research Focus:cell signaling & trafficking· 1 Research Focus:chromatin & epigenetic regulation· 1 Assay:clinical cohort / trial· 1 Research Focus:differential expression· 1

Frequent Co-Authors

D. M. Muzny· 2 shared E. M. Mace· 2 shared J. R. Lupski· 2 shared J. S. Orange· 2 shared L. R. Forbes· 2 shared R. A. Gibbs· 2 shared S. N. Jhangiani· 2 shared A. Bielinsky· 1 shared

Activity by Year

2017-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersImmunology

D. M. Muzny

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Author profile →

3 papers

Recent·Most cited

Human NK cell deficiency as a result of biallelic mutations in MCM10

E. Mace, S. Paust, M. I. Conte, R. M. Baxley, M. Schmit, N. C. Guilz, M. Mukherjee, A. E. Pezzi, J. Chmielowiec, S. Tatineni, I. K. Chinn, Z. C. Akdemir, S. N. Jhangiani, D. M. Muzny, A. Stray-Pedersen, , J. Orange

This study identifies biallelic MCM10 mutations as a cause of human NK cell deficiency, showing impaired NK cell maturation and function in a patient with CMV susceptibility.

bioRxiv · Nov 7, 2019Immunology

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

W. A. Comrie, M. C. Poli, S. A. Cook, M. Similuk, A. Oler, A. J. Faruqi, D. B. Kuhns, S. Yang, A. F. Carisey, B. Fournier, D. E. Anderson, S. Price, W. A. Chahla, A. Vargas-Hernandez, L. R. Forbes, , M. J. Lenardo

Hem1 loss-of-function mutations cause congenital immunodysregulation by disrupting WAVE2 and mTORC2 complexes, leading to immunodeficiency and immune hyperresponsiveness.

bioRxiv · Jul 4, 2019 · PreprintImmunology

Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations

A. Vargas Hernandez, E. M. Mace, O. Zimmerman, C. Zerbe, A. Freeman, S. Rosenzweig, J. W. Leiding, T. Torgerson, M. C. Altman, E. Schussler, C. Cunningham-Rundles, I. K. Chinn, I. C. Hanson, N. L. Rider, S. M. Holland, , L. R. Forbes

This study shows that ruxolitinib partially restores NK cell function in STAT1 GOF patients by reducing STAT1 phosphorylation and improving cytotoxic activity.

bioRxiv · Jun 28, 2017Immunology