New pathomechanism of HLH identified using patient-derived cells
2021
St Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria
Hemophagocytic lymphohistiocytosis (HLH) is a rare, severe genetic disease that causes dramatic, life-threatening inflammation by hyperactivation of the immune cells. The cytotoxic T lymphocyte (CTL) and natural killer (NK) cell exocytosis functions are crucial for the elimination of infected or malignant cells, which is impaired in a group of diseases like HLH. The molecular underlying mechanisms remain largely elusive. Cells from a patient suffering from this disease were analysed, revealing a mutation in the enzyme RhoG. By establishing a human RhoG-knock out cell line, it was shown that the absence of RhoG impairs the exocytosis process, thus defining the molecular pathomechanism and identifyig a yet unreported genetic form of HLH.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis
Kaan Boztug
Added on: 05-05-2021
[1] https://ashpublications.org/blood/article/137/15/2033/475089/RhoG-deficiency-abrogates-cytotoxicity-of-human[2] https://www.bionity.com/en/news/1170740/immune-cells-out-of-control.html
