STAT5 haploinsufficiency
A condition characterized by haploinsufficient levels of STAT5 protein due to reduced copy number or expression of the STAT5A and/or STAT5B genes, with consequent attenuation of STAT5-mediated cytokine signalling (including IL-7 and growth hormone pathways). This condition is also associated with altered lymphocyte homeostasis and modified susceptibility to lymphoma development.
MONDO:0003778
inborn error of immunity
is_a
MONDO:0100210
growth hormone insensitivity syndrome with immune dysregulation
is_a
STAT5 deficiency (haploinsufficient)
exact
STAT5A/5B haploinsufficiency
exact