@article{ffdab5d3043a43e086a137a59b1d8c27,
title = "The Ying and Yang of STAT3 in Human Disease",
abstract = "The transcription factor signal transducer and activator of transcription 3 (STAT3) is a critical regulator of multiple, diverse cellular processes. Heterozgyous, germline, loss-of-function mutations in STAT3 lead to the primary immune deficiency Hyper-IgE syndrome. Heterozygous, somatic, gain-of-function mutations in STAT3 have been reported in malignancy. Recently, germline, heterozygous mutations in STAT3 that confer a gain-of-function have been discovered and result in early-onset, multi-organ autoimmunity. This review summarizes what is known about the role of STAT3 in human disease.",
keywords = "Hyper-IgE syndrome, Job syndrome, STAT3, gain-of-function, monogenic autoimmunity",
author = "Vogel, {Tiphanie P.} and Milner, {Joshua D.} and Cooper, {Megan A.}",
note = "Funding Information: The authors acknowledge the contributions of the members of the M.A.C. laboratory, particularly Ms. Nermina Saucier. This work was supported in part by the intramural research program of the National Institute of Allergy and Infectious Diseases, NIH. Work in M.A.C{\textquoteright}s laboratory was supported by The Children{\textquoteright}s Discovery Institute and St. Louis Children{\textquoteright}s Hospital, The Scleroderma Foundation, the Rheumatic Diseases Core Center at Washington University (P30AR048335), and NIH training grant 5T32AR007279 (T.P.V.). Publisher Copyright: {\textcopyright} 2015, Springer Science+Business Media New York.",
year = "2015",
month = aug,
day = "18",
doi = "10.1007/s10875-015-0187-8",
language = "English",
volume = "35",
pages = "615--623",
journal = "Journal of Clinical Immunology",
issn = "0271-9142",
number = "7",
}