Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

By Y. Minegishi, M. Saito, S. Tsuchiya, I. Tsuge, H. Takada, T. Hara, N. Kawamura, T. Ariga, S. Pasic, O. Stojković and 2 more. Nature, 2007

966 citations recorded by the source corpus.

Subfields: Immunology

View Paper: https://www.semanticscholar.org/paper/26004fcb41607b0fc819e7564fdd247b6b5b8af0

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In Immunology

1. Jinfang Zhu
2. W. E. Paul
3. J. O’Shea
4. D. Artis
5. Hua Yu
6. R. Jove
7. Y. Kanno
8. A. Laurence

Citations in the corpus

• STATs in cancer inflammation and immunity: a leading role for STAT3 (2009, positive): “Additionally, genetic studies in patients with hyper-IgE syndrome identified dominant-negative STAT3 gene mutations — effectively abolishing STAT3 signalling — as the cause of the disease in some of the patient”
• Differentiation of Effector CD4 T Cell Populations (2010, positive): “STAT3—STAT3 is activated by IL-6, IL-21, and IL-23, cytokines that are involved in Th17 cell differentiation, amplification, and maintenance (21–24, 41, 42).”
• Cytokine signaling modules in inflammatory responses. (2008, background): “These cytoplasmic kinases comprise the four members of the Jak family: Jak1, Jak2, and Tyk2 bind to an array of receptors, whereas Jak3 binds to only one receptor, the common gamma chain, or gc. Mutations of JAK3 or TYK2 in humans lead to specific primary immunodeficiency syndromes designated severe”
• STAT3 signaling in immunity (2016, background): “led 2 independent groups to identify missense and point mutations in STAT3 that abrogate STAT3 transcriptional function and subsequent biological responses [63, 64].”
• The JAK-STAT Pathway: Impact on Human Disease and Therapeutic Intervention (2015, background): “Underlying many cases of autosomal dominant HIES are dominant negative mutations of STAT3 (5, 6).”
• Peripheral CD4 T cell differentiation regulated by networks of cytokines and transcription factors (2010, background): “and STAT3 mutations that result in hyper-IgE syndrome associated with failure in Th17 responses to extracellular bacterial and fungal infections (79, 126).”
• Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease (2012, background): “(DK062429-S1 and Crohn’s & Colitis Foundation of America, Senior Investigator Award (5-2229)) and R.”
• Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22 (2011, background): “Consistent with the role of IL-22 in promoting immunity to fungal and bacterial pathogens at barrier surfaces in mouse models, patients with this syndrome also suffer severe and recurrent secondary infections in the skin, lung and intestin”
• Diverse Targets of the Transcription Factor STAT3 Contribute to T Cell Pathogenicity and Homeostasis (2010, background): “Patients with Job’s or Hyper IgE Syndrome (HIES) have dominant-negative mutations of STAT3 and are deficient in Th17 cells, underscoring the close link between STAT3 and Th17 cells (Holland et al., 2007; Ma et al., 2008; Milner et al., 2008; Minegishi et al., 2007).”