Associated Papers
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
41438753 (PubMed )
Supplement: Table1.pdf
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G et al.
The Journal of Clinical Investigation, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.
Duncan CJA et al.
Journal of Clinical Immunology, 2021
Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity.
Duncan CJA et al.
Trends in Genetics : Tig, 2021
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.
Elhabyan A et al.
Virus Research, 2020
A novel kindred with inherited STAT2 deficiency and severe viral illness.
Moens L et al.
The Journal of Allergy and Clinical Immunology, 2017
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Shahni R et al.
Brain : a Journal of Neurology, 2015
STAT2 deficiency and susceptibility to viral illness in humans.
Hambleton S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
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