JAK Inhibition in the Aicardi-Goutières Syndrome. Reply

Overview

Journal N Engl J Med

Specialty General Medicine

Date 2020 Nov 30

PMID 33252885

Citations 6

Authors

Laura Adang

Raphaela Goldbach-Mansky

Adeline Vanderver

Affiliations

Soon will be listed here.

Citing Articles

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.

Adang L, DAiello R, Takanohashi A, Woidill S, Gavazzi F, Behrens E JCI Insight. 2024; 9(14).

PMID: 38885315 PMC: 11383167. DOI: 10.1172/jci.insight.178456.

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Gavazzi F, Vaia Y, Woidill S, Formanowski B, Peixoto de Barcelos I, Sevagamoorthy A Neurology. 2024; 103(1):e209541.

PMID: 38857477 PMC: 11226315. DOI: 10.1212/WNL.0000000000209541.

Nucleotide metabolism, leukodystrophies, and CNS pathology.

Gavazzi F, Gonzalez C, Arnold K, Swantkowski M, Charlton L, Modesti N J Inherit Metab Dis. 2024; 47(5):860-875.

PMID: 38421058 PMC: 11358362. DOI: 10.1002/jimd.12721.

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.

Gavazzi F, Glanzman A, Woidill S, Formanowski B, Dixit A, Isaacs D J Child Neurol. 2023; 38(8-9):518-527.

PMID: 37499181 PMC: 10530058. DOI: 10.1177/08830738231188753.

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.

Takanohashi A, Alameh M, Woidill S, Hacker J, Davis B, Helman G Mol Genet Metab. 2022; 137(4):320-327.

PMID: 36334423 PMC: 9550281. DOI: 10.1016/j.ymgme.2022.10.001.

References

Armangue T, Orsini J, Takanohashi A, Gavazzi F, Conant A, Ulrick N . Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. Mol Genet Metab. 2017; 122(3):134-139. PMC: 5722655. DOI: 10.1016/j.ymgme.2017.07.006. View

Montealegre Sanchez G, Reinhardt A, Ramsey S, Wittkowski H, Hashkes P, Berkun Y . JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018; 128(7):3041-3052. PMC: 6026004. DOI: 10.1172/JCI98814. View

Adang L, Gavazzi F, Jawad A, Cusack S, Kopin K, Peer K . Development of a neurologic severity scale for Aicardi Goutières Syndrome. Mol Genet Metab. 2020; 130(2):153-160. PMC: 7366613. DOI: 10.1016/j.ymgme.2020.03.008. View