Concepedia

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

Tariq Al Shehri, Kimberly Gilmour, Florian Gothe, Sam Loughlin, Shahnaz Bibi, Angela Grainger, Thivytra Mohanadas, Andrew J. Cant, Mary Slatter, Sophie Hambleton,

Journal of Clinical Immunology · 2019 · 34 citations · 22 references

DOI

Concepts

References

22

Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Luyan Liu, Satoshi Okada, Xiao‐Fei Kong et al. · The Journal of Experimental Medicine · 2011 · 798 citations · Full text

, , +17

<i>STAT1</i> Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

Frank L. van de Veerdonk, Theo S. Plantinga, Alexander Hoischen et al. · New England Journal of Medicine · 2011 · 656 citations · Full text

, , +17

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Julie Toubiana, Satoshi Okada, Julia Hiller et al. · Blood · 2016 · 567 citations · Full text

, , +9

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

Gülbû Uzel, Elizabeth P. Sampaio, Monica G. Lawrence et al. · Journal of Allergy and Clinical Immunology · 2013 · 303 citations · Full text

, , +11

A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory

Andrea Siegel, Jennifer Heimall, Alexandra F. Freeman et al. · Immunity · 2011 · 282 citations · Full text

, , +16