Mutations in STAT5B
and SETD2 have been described in the MEITL cases of [gamma]-[delta] derivation.
Nadeau, "The STAT5b
pathway defect and autoimmunity," Frontiers in Immunology, vol.
Primary GH insensitivity is caused by genetic disorders involving GHR or its downstream mediators such as STAT5b
, the IGFI/IGFBP3-stabilized acid labile subunit (ALS), IGF-I, or the IGF-I receptor gene .
Remarkably, Th17-lymphocyte-related genes and transcripts that can modulate Th17 cell development and functions were overexpressed including IL4R, IL2RG, IL6ST, IL1B, IL7R, STAT6, STAT5B
, SOCS3, and CXCL2.
Fajas, F Gouilleux et al., "A functional polymorphism in a STAT5B
site of the human PPAR[gamma]3 gene promoter affects height and lipid metabolism in a French population," Arteriosclerosis, Thrombosis, and Vascular Biology, vol.
In mammals, the STAT family is comprised of seven members (STAT1, STAT2, STAT3, STAT4, STAT5a, STAT5b
, and STAT6) and there are four tyrosine kinases identified (JAK1, JAK2, JAK3, and TYK2) .
Abrahamsen et al., "EGF receptormediated, c-Src-dependent, activation of Stat5b
is downregulated in mitogenically responsive hepatocytes," Journal of Cellular Physiology, vol.
Four types of JAK (JAK1, JAK2, JAK3, and Tyk2) and seven types of STAT (STAT1, STAT2, STAT3, STAT4, STAT5a, STAT5b
, and STAT6) proteins exist.
Among these diseases, APECED, ALPS, IPEX, IPEX-like syndromes (CD25 and STAT5b
deficiency, LRBA deficiency, CTLA4 deficiency, gain of function mutation of the STAT1 gene), IL-10/IL-10 receptor deficiency and newly defined Phospholipase C-gamma-2-related autoantibody deficiency and immune dysregulation (PLAID) are characterized by autoimmunity.
Rare deleterious gene mutations affecting height have been described throughout the growth hormone-releasing hormone (GHRH)- GH- insulin-like growth factor-1 (IGF-I) pathway (3), involving the GHRH receptor, pituitary-specific transcription factors, GH, the GH receptor (Laron syndrome), post-GH receptor JAK/STAT signaling (STAT5B
), IGF-I, and the type 1 IGF (IGF-1) receptor.
They are STAT-1, STAT 2, STAT3, STAT 4, STAT5a, STAT5b
and STAT 6.
We evaluated hepatic expression of CYP2C and CYP3A isoforms in connection with the changes of liver-enriched transcription factors: HNF4[alpha], HNF6, STAT5b
(signal transducer and activator of transcription 5b) and PXR receptor, and GH secretory pattern.