Background/ Motivation
Hemophagocytic lymphohistiocytosis (HLH) is a rare but deadly autoimmune condition affecting both adults and pediatric patients, where large numbers of T and myeloid cells are sustained in positive feedback loops of pro-inflammatory signalling causing fatal organ damage without prompt clinical intervention. HLH can be triggered by genetic mutations (familial HLH), infection, chemotherapy or malignancy - most commonly, leukaemia or lymphoma (secondary or malignancy-associated HLH). Both adult and pediatric HLH patients suffer a poor prognosis, with median survival of 0.9 and 1.2 years in chemotherapy and malignancy-induced HLH respectively1.
Results
During experiments utilizing NOD-SCID-il2gr -/-(NSG) mice transgenically expressing human Stem Cell Factor (SCF), Granulocyte-Macrophage Colony Stimulating-Factor (GM-CSF), and IL-3 (NSG-SGM3), we observed an extreme sensitivity to myelosuppressive chemotherapy, along with a decline in red blood cell and platelet counts when mice were kept for extended periods (>15 weeks) post-engraftment of human hematopoietic stem cells (HSC). Further investigation of hematopoiesis in NSG-SGM3 mice and comparison to non-cytokine transgenic NSG mice revealed hypocellular bone marrow, splenomegaly, elevated mean corpuscular and platelet volumes, and elevated levels of human IL-6 and MCP-1 in NSG-SGM3. Levels of human IL-6, MCP-1 (CCL2), IL-8, and most notably IL-18 were highly correlated with anemia severity in NSG-SGM3 mice.
Conclusion
These data in corroboration with several recently published papers demonstrate complete penetrance of a HLH-like syndrome in NSG-SGM3 mice engrafted with HSC to generate a human immune system. This model can be used to evaluate novel cytokine inhibitors or other immunotherapies before testing in human HLH patients.