Article
Somatic STAT5BN642H mutations shape variable immune landscapes resulting in heterogenous immune diseases.
The Journal of allergy and clinical immunology - 1 Apr 2026
Grün Sarah, Rensing-Ehl Anne, Suske Tobias, Wolter-Mess Julian, Gehrig Jonathan, Mann Jasmin, König Christoph, Hauri Mathias, Heeg Maximilian, Leahy Timothy Ronan, Genevieve David, Gaillard Jean-Baptiste, Broly Martin, Bourdin Arnaud, Castro Carla, Seidel Lea, Bengsch Bertram, Aichele Peter, Weißert Kristoffer, Fernandez-Orth Juncal, Schipperges Vincent, Andrieux Geoffroy, Boerries Melanie, Cabezas-Wallscheid Nina, Erlacher Miriam, Elling Roland, Speckmann Carsten, Heller Lara, Schulte Björn, Lorenz Myriam, Schwarz Klaus, Moriggl Richard, Ehl Stephan
Abstract excerpt
BACKGROUND: Inborn errors of immunity are traditionally understood as monogenic germline disorders. However, somatic mosaicism can also result in immune-mediated diseases, mimicking inborn errors of immunity. While early postzygotic mosaicism is the predominant mechanism, genetic variants causing a selective advantage to hematopoietic progenitors and/or mature immune cells may cause immune dysregulation and...
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