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Article

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

19 Feb 2025

Abstract excerpt

BACKGROUND: Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation of type I interferon (IFN) signalling, we identified a cohort of individuals heterozygous for mutations in PTPN1, encoding the protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe the clinical phenotype and molecular and cellular pathology of this new disease. METHODS: In this case series,...

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PMID: 39986310
DOI: 10.1016/s1474-4422(24)00526-x

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