Associated Papers
Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.
Hennighausen L et al.
International Journal of Biological Sciences, 2026
The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer.
Xiang C et al.
Nature Immunology, 2025
USP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes.
Alattas A et al.
Cureus, 2025
The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies.
Demirkaya DB et al.
Expert Review of Clinical Immunology, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Infections in Inborn Errors of STATs.
Wang C et al.
Pathogens (basel, Switzerland), 2024
Type I interferon regulation by USP18 is a key vulnerability in cancer.
Jové V et al.
Iscience, 2024
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Akalu YT et al.
Nature Reviews. Genetics, 2024
Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease.
Toth KA et al.
Journal of Immunology (baltimore, Md. : 1950), 2023
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
Zhu G et al.
Journal of Clinical Immunology, 2023
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.
Moundir A et al.
Journal of Clinical Immunology, 2023
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG et al.
Journal of Clinical Immunology, 2022
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
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.
Gruber C et al.
The Journal of Experimental Medicine, 2020
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