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Article

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.

The Journal of experimental medicine - 4 May 2020

Gruber Conor, Martin-Fernandez Marta, Ailal Fatima, Qiu Xueer, Taft Justin, Altman Jennie, Rosain Jérémie, Buta Sofija, Bousfiha Aziz, Casanova Jean-Laurent, Bustamante Jacinta, Bogunovic Dusan

Abstract excerpt

Type I interferonopathies are monogenic disorders characterized by enhanced type I interferon (IFN-I) cytokine activity. Inherited USP18 and ISG15 deficiencies underlie type I interferonopathies by preventing the regulation of late responses to IFN-I. Specifically, USP18, being stabilized by ISG15, sterically hinders JAK1 from binding to the IFNAR2 subunit of the IFN-I receptor. We report an infant who died of...

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Identifiers

PMID: 32092142
DOI: 10.1084/jem.20192319
PMCID: PMC7201920

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Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.PMID 32092142Read ↗

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