Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

ABSTRACT:

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, we identified patients and collected clinical and neuroradiological data through collaboration with paediatric neurology and clinical genetics colleagues across Europe (Czechia, France, Germany, Italy, Slovenia, and the UK) and Israel. Variants in PTPN1 were identified by exome and directed Sanger sequencing. The expression of IFN-stimulated genes was determined by quan

SUBMITTER: Zhu G 

PROVIDER: S-EPMC7617446 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature