STAT5 haploinsufficiency

Definition

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.

Also known as STAT5 deficiency (haploinsufficient), STAT5A/5B haploinsufficiency — per MONDO