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
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.
Duran JSC et al.
Biorxiv : the Preprint Server for Biology, 2024
The ups and downs of STAT3 function: too much, too little and human immune dysregulation.
Mackie J et al.
Clinical and Experimental Immunology, 2023
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
Tanita K et al.
Journal of Clinical Immunology, 2021
Somatic mutations and T-cell clonality in patients with immunodeficiency.
Savola P et al.
Haematologica, 2020
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Vogelaar IP et al.
European Journal of Human Genetics : Ejhg, 2017
28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds.
Nabhani S et al.
Clinical Immunology (orlando, Fla.), 2017
The Ying and Yang of STAT3 in Human Disease.
Vogel TP et al.
Journal of Clinical Immunology, 2015
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi EM et al.
Blood, 2015
Select a paper to view details