CTLA4 Haploinsufficiency presenting with Classic Kaposi’s Sarcoma and its response to Everolimus


Reference: Yap, J.Y., Gloss, B., Batten, M. et al. Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency. J Clin Immunol (2020)

Published: 19 June 2020

Journal: Journal of Clinical Immunology

Summary: A CTLA4 haploinsufficient patient with cryptic splice site mutation who presented with classical Kaposi’s sarcoma and the therapeutic response to  targeted therapy with Everolimus

Take Home Message: Low-dose sirolimus and everolimus can reprogram exhausted T cells and recalibrate anti-viral and anti-cancer immunity