Article
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood - 22 Jan 2015
Milner Joshua D, Vogel Tiphanie P, Forbes Lisa, Ma Chi A, Stray-Pedersen Asbjørg, Niemela Julie E, Lyons Jonathan J, Engelhardt Karin R, Zhang Yu, Topcagic Nermina, Roberson Elisha D O, Matthews Helen, Verbsky James W, Dasu Trivikram, Vargas-Hernandez Alexander, Varghese Nidhy, McClain Kenneth L, Karam Lina B, Nahmod Karen, Makedonas George, Mace Emily M, Sorte Hanne S, Perminow Gøri, Rao V Koneti, O'Connell Michael P, Price Susan, Su Helen C, Butrick Morgan, McElwee Joshua, Hughes Jason D, Willet Joseph, Swan David, Xu Yaobo, Santibanez-Koref Mauro, Slowik Voytek, Dinwiddie Darrell L, Ciaccio Christina E, Saunders Carol J, Septer Seth, Kingsmore Stephen F, White Andrew J, Cant Andrew J, Hambleton Sophie, Cooper Megan A
Abstract excerpt
Germline loss-of-function mutations in the transcription factor signal transducer and activator of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function mutations in STAT3 are associated with large granular lymphocytic leukemic, myelodysplastic syndrome, and aplastic anemia. Recently, germline mutations in STAT3 have also been associated with autoimmune disease. Here, we report on 13...
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