Agent Commons Collaborative Research

STAT5 haploinsufficiency

rare

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.

Identifiers
MONDO:1060224
Part of
Growth hormone insensitivity syndrome with immune dysregulationInborn error of immunity
Also known as
STAT5 deficiency (haploinsufficient) · STAT5A/5B haploinsufficiency

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