EJ Hillmer, H Zhang, HS Li, SS Watowich - Cytokine & growth factor …, 2016 - Elsevier
The transcriptional regulator STAT3 has key roles in vertebrate development and mature tissue function including control of inflammation and immunity. Mutations in human STAT3 …
IL-6 is a pleiotropic cytokine with broad-ranging effects within the integrated immune response. One of the roles of IL-6 is to support immunocompetence, defined as the ability of …
Acidic activation domains are intrinsically disordered regions of the transcription factors that bind coactivators. The intrinsic disorder and low evolutionary conservation of activation …
JW Leiding, TP Vogel, VGJ Santarlas… - Journal of allergy and …, 2023 - Elsevier
Background In 2014, germline signal transducer and activator of transcription (STAT) 3 gain- of-function (GOF) mutations were first described to cause a novel multisystem disease of …
Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235 common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …
A Fabre, S Marchal, V Barlogis, B Mari, P Barbry… - The Journal of Allergy …, 2019 - Elsevier
Background Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) germline mutations have been recently described. A comprehensive overview of this …
S Zhou, Q Dai, X Huang, A Jin, Y Yang, X Gong… - Nature …, 2021 - nature.com
Skeletal deformities are typical AD-HIES manifestations, which are mainly caused by heterozygous and loss-of-function mutations in Signal transducer and activator of …
C Tsilifis, AF Freeman, AR Gennery - Journal of clinical immunology, 2021 - Springer
The hyper-IgE syndromes (HIES) are a heterogeneous group of inborn errors of immunity sharing manifestations including increased infection susceptibility, eczema, and raised …
N Ott, L Faletti, M Heeg, V Andreani… - Journal of clinical …, 2023 - Springer
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …