Associated Papers
Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.
Mackie J et al.
Clinical and Experimental Immunology, 2025
The ups and downs of STAT3 function: too much, too little and human immune dysregulation.
Mackie J et al.
Clinical and Experimental Immunology, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano T et al.
The Journal of Experimental Medicine, 2021
A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.
Chaimowitz NS et al.
Frontiers in Pediatrics, 2019
Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?
de Silva R et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.
Bocchini CE et al.
Blood, 2016
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome.
Pelham SJ et al.
The Journal of Allergy and Clinical Immunology, 2016
The Ying and Yang of STAT3 in Human Disease.
Vogel TP et al.
Journal of Clinical Immunology, 2015
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