What is it about?

Job syndrome is a rare genetic disorder caused by STAT3 mutations and primarily characterized by immune dysfunction along with comorbid skeleton developmental abnormalities including reduced bone formation, recurrent fracture of long bones and scoliosis. So far there is no definitive cure for the skeletal defects in Job syndrome and treatments are limited to management of clinical symptoms only. Here we have investigated the molecular mechanism whereby Stat3 regulates skeletal development and bone formation.

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Why is it important?

Understanding the cell of origin and molecular mechanisms underlying rare genetic diseases provide invaluable insights into human biology and pathology of not only rare genetic diseases, but also related common disorders.

Perspectives

Our work provides a new foundation for further understanding the principles whereby Stat3 governs bone formation and maintenance and shows that Wnt signaling could be targeted to correct skeletal defects in Job syndrome patients.

Yingzi Yang
Harvard University

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This page is a summary of: Stat3 loss in mesenchymal progenitors causes Job syndrome–like skeletal defects by reducing Wnt/β-catenin signaling, Proceedings of the National Academy of Sciences, June 2021, Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.2020100118.
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