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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

2014; Elsevier BV; Volume: 125; Issue: 4 Linguagem: Inglês

10.1182/blood-2014-09-602763

1528-0020

Joshua D. Milner, Tiphanie P. Vogel, Lisa R. Forbes, Chi A., Asbjørg Stray‐Pedersen, Julie E. Niemela, Jonathan J. Lyons, Karin R. Engelhardt, Yu Zhang, Nermina Topcagic, Elisha Roberson, Helen Matthews, James Verbsky, Trivikram Dasu, Alexander Vargas‐Hernández, Nidhy P. Varghese, Kenneth L. McClain, Lina Karam, Karen Nahmod, George Makedonas, Emily M. Mace, Hanne Sørmo Sorte, Gøri Perminow, V. Koneti Rao, Michael P. O’Connell, Susan Price, Helen C. Su, Morgan Butrick, Joshua McElwee, Jason D. Hughes, Joseph D. P. Willet, David Swan, Yaobo Xu, Mauro Santibanez‐Koref, Voytek Slowik, Darrell L. Dinwiddie, Christina E. Ciaccio, Carol Saunders, Seth Septer, Stephen F. Kingsmore, Andrew J. White, Andrew J. Cant, Sophie Hambleton, Megan A. Cooper,

T-cell and B-cell Immunology

Key Points Germline gain-of-function mutations in STAT3 lead to lymphoproliferation and autoimmunity with prominent cytopenias. Mutations in STAT3 cause altered regulatory T cells and cytokine signaling.