Hepatic Manifestations of STAT1 Gain-of-Function Variants

Key Points

• Hepatic manifestations are linked to STAT1 gain-of-function variants, indicating a novel mechanism.
• Fifty percent of patients exhibited abnormal liver function tests, underscoring severity.
• Observational analysis across diverse cases highlights the role of STAT1 variants in liver disease.
• These findings support the need for targeted treatments in patients with these specific genetic variants.