STAT1 and STAT3 mutations: important lessons for clinical immunologists.
Expert Rev Clin Immunol. 2018 Oct 03;:
Authors: Olbrich P, Freeman AF
INTRODUCTION: The transcription factors signal transducer and activator of transcription (STAT) 1 and STAT3 fulfill fundamental functions in non-immune and immune cells. The description and follow-up of patients with germline mutations that result in either loss-of-function (LOF) or gain-of-function (GOF) have contributed to our understanding of the pathophysiology of these regulators. Depending on the type of mutations, clinical symptoms are complex and can include infection susceptibility, immune dysregulation as well as characteristic non-immune features. Areas covered: In this review we provide an overview about mechanistic concepts, clinical manifestations, diagnostic process and traditional as well as innovative treatment options aiming to help the clinical immunologist to better understand and manage these complex and rare diseases. Clinical and research papers were identified and summarized through PubMed internet searches, and expert opinions are provided. Expert Commentary: The last several years have seen an explosion in the clinical descriptions and pathogenesis knowledge of the diseases caused by GOF and LOF mutations in STAT1 and STAT3. However, harmonization of laboratory testing and follow-up in international cohorts is needed to increase our knowledge about the natural history of these disorders as well as the development of curative or supportive targeted therapies.
PMID: 30280610 [PubMed - as supplied by publisher]