Grants Awarded

Principal Investigator
Dr. Fernando Sepulveda
Imagine Institute
Paris, FR

Date of Award
December 2021

Amount of Award
$50,000

Layperson Summary

The understanding of the genetic causes and the physiopathological mechanisms underlying HLH is critical for the development of more efficient therapies. The study of animal models of HLH have contributed to our understanding of the link between defects in the cytotoxic activity of lymphocytes and the dysregulated immune homeostasis observed in HLH patients. However non-classical HLH patients can also present with normal cytotoxic activity of lymphocytes, highlighting the necessity of further studies to improve our understanding of these non-classical forms of HLH. Recently, we identify genetic defects in a group of patients presenting with a high susceptibility of HLH associated to a sub-cutaneous lymphoma. In this project we seek to identify new genetic causes of this con-classical form of HLH, as well as to gain valuable insights into the mechanisms underlying this devastating condition. The successful accomplishment of our project will have a direct impact improving diagnosis and potentially identifying better suited treatments for this non-classical form of HLH.