Case Report: Dual molecular diagnosis of gain-of-function <i>STAT1</i> mutation and regulatory <i>STAT3</i> variant in a patient with a hyper-IgE-like phenotype.

ABSTRACT:

Background

The transcription factors signal transducer and activator of transcription 1 and 3 (STAT1 and STAT3) play essential roles in immune and non-immune cell function. The clinical characterization of patients carrying germline gain or loss-of-function (GOF or LOF) mutations in these genes has significantly improved our understanding of their physiological and pathological roles. Although patients with STAT3 LOF, STAT3 GOF, and STAT1 GOF mutations are classified into distinct inborn errors of immunity (IEI) categories, namely Hyper-IgE Syndrome, Regulatory T cell defects, and predisposition to Mucocutaneous Candidiasis, respectively, there is notable clinical overlap among these disorders.

Case summary

We describe a 17-year-old girl with recurrent l

SUBMITTER: Yaakoubi R 

PROVIDER: S-EPMC12531231 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature