Characterization of an Autoimmune Condition Associated with AEC Syndrome
March 2016
AEC syndrome p63 gene mutation conditional knock-in mouse model L514F mutation skin defects complete hair loss hyperplastic epidermis hyperkeratotic epidermis immune cell infiltration Thymic stromal lymphopoietin autoimmune lymphoproliferative disorder Tslp ablation skin inflammation p63 mutation hair loss skin thickening immune cells Tslp autoimmune disorder Tslp removal
TLDR Controlling Tslp can improve health in AEC syndrome patients.
The study characterized an autoimmune condition associated with AEC syndrome, a severe genetic disorder caused by a p63 gene mutation. Researchers generated a conditional knock-in mouse model with an inducible p63 mutation (L514F) to investigate the underlying molecular mechanisms. The mutant mice exhibited severe skin defects, including complete hair loss, hyperplastic and hyperkeratotic epidermis, and massive immune cell infiltration. Elevated levels of Thymic stromal lymphopoietin (Tslp) led to autoimmune lymphoproliferative disorder. Ablation of Tslp improved health conditions, reduced skin inflammation, and increased survival. The study suggested that controlling Tslp could be therapeutically beneficial for AEC patients.