Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.

ABSTRACT:

Background

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX) syndrome caused by FOXP3 mutations is rare. FOXP3 is a transcription factor required for the regulatory T cell (Treg) development/function.

Aim

We aimed to characterize the clinical, immunologic, and genetic features of a single-center cohort of IPEX syndrome.

Patients and methods

We present the clinical/immunological/genetic features of 12 patients with IPEX syndrome. We used whole exome and Sanger sequencing for the diagnosis/familial segregation. We performed immunophenotyping and measured Treg percentage and FOXP3 expression in peripheral blood by flow cytometric analysis.

Results

Median age at diagnosis was 2.5 years (range: 0.3-22 years). Common clinical manifestations we

SUBMITTER: Yaz I 

PROVIDER: S-EPMC12540517 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature