What is STAT3 mutation?

STAT3 gene mutations are found in approximately one-third of cases of a blood cancer called large granular lymphocytic leukemia (LGL), which is characterized by the accumulation of white blood cells (lymphocytes) that are abnormally large and contain structures called granules.

What is STAT3 GOF disease?

STAT3 GOF disease is an early-onset autoimmune and lymphoproliferative disease (see Glossary). The. symptoms of this disease vary and can include swelling of the lymph nodes (lymphadenopathy), reduc. tions in the number of blood cells (autoimmune cytopenias), autoimmunity that affects multiple organs.

What activates STAT3?

STAT3 is activated by several pro-inflammatory cytokines, including interleukin-6 (IL-6)24,25,26, which is a prime target for therapeutic intervention in several inflammatory diseases including rheumatoid arthritis, Still’s disease and giant cell arthritis.

What genes does STAT3 activate?

Stat3 was first described as a DNA-binding activity from IL-6–stimulated hepatocytes, capable of selectively interacting with an enhancer element in the promoter of acute-phase genes, known as the acute-phase response element (6–9).

Is STAT3 a transcription factor?

STAT3 belongs to the signal transducer and activator of transcription (STAT) family of signal responsive transcription factors which consists of seven members encoded by distinct genes.

What is STAT1 gain function?

STAT1 gain-of-function (GOF) is a primary immunodeficiency typically characterized by chronic mucocutaneous candidiasis (CMC), recurrent respiratory infections, and autoimmunity.

What is a STAT3 inhibitor?

Specific STAT3 direct inhibitors consist of SH2 ligands, including G quartet oligodeoxynucleotides (ODN) and small molecules, they induce cell death in tumor cells in which STAT3 is activated. STAT3 can also be inhibited by decoy ODNs (dODN), which bind STAT3 and induce cell death.

What kind of protein is STAT3?

Signal transducer and activator of transcription 3 (STAT3) is a transcription factor which in humans is encoded by the STAT3 gene. It is a member of the STAT protein family….STAT3.

RNA expression pattern
BioGPS More reference expression data

What genes does STAT3 regulate?

STAT3 can directly and indirectly regulate the expression of many genes implicated in survival (survivin, bcl-xl, mcl-1, FLICE-like inhibitory protein), cell-cycle progression (c-fos, c-myc, cyclin D1), invasion (matrix metalloproteinase MMP 2, 9, 14), and angiogenesis (vascular endothelial growth factor, VEGF) [3,4,5.

What cells express in STAT3?

Signal transducer and activator of transcription 3 (STAT3) is a transcription factor that is activated downstream of many key cytokine receptors expressed by lymphocytes. As such, it plays a critical role in regulating B cells as well as CD4+ and CD8+ T cells.

What is chronic mucocutaneous candidiasis?

Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of syndromes with the common features of chronic noninvasive Candida infections of the skin, nails, and mucous membranes that are usually resistant to topic treatment and absence of invasive fungal infections.