Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.

ABSTRACT:

Background

Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause is unknown, and mortality is high.

Methods

We evaluated four patients from three unrelated families with an autosomal dominant pattern of inheritance of DPM. Genomic sequencing independently identified three heterozygous variants in a specific region of the gene that encodes signal transducer and activator of transcription 4 (STAT4). Primary skin fibroblast and cell-line assays were used to define the functional nature of the genetic defect. We also assayed gene expression using single-cell RNA sequencing of peripheral-blood mononuclear cells to identify inflam

SUBMITTER: Baghdassarian H 

PROVIDER: S-EPMC10392571 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature