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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Authors
Joshua Milner,Tiphanie Vogel
Lisa Forbes,Chi A.,Asbjørg Stray‐Pedersen,Julie Niemela,Jonathan Lyons,Karin Engelhardt,Yu Zhang,Nermina Topcagic,Elisha Roberson,Helen Matthews,James Verbsky,Trivikram Dasu,Alexander Vargas‐Hernández,Nidhy Varghese,Kenneth McClain,Lina Karam,Karen Nahmod,George Makedonas,Emily Mace,Hanne Sorte,Gøri Perminow,V. Rao,Michael O’Connell,Susan Price,Helen Su,Morgan Butrick,Joshua McElwee,Jason Hughes,Joseph Willet,Daniel Swan,Yaobo Xu,Mauro Santibanez‐Koref,Voytek Slowik,Darrell Dinwiddie,Christina Ciaccio,Carol Saunders,Seth Septer,Stephen Kingsmore,Andrew White,Andrew Cant,Sophie Hambleton
+41 authors
,Megan CooperJournal
Published
Oct 31, 2014
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Abstract
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.
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