Table 1 Classification of primary (genetic) and secondary (reactive) HLH [46–48]
From: Macrophage Activation Syndrome: different mechanisms leading to a one clinical syndrome
GENE | FUNCTION | |
|---|---|---|
Genetic HLH | ||
Primary or Familial HLH (pHL) | ||
pHL-1 | Unknown | |
pHL-2 | PRF1 | Pore-forming protein |
pHL-3 | UNC13D | Vesicle priming (impair granule exocytosis) |
pHL-4 | STX11 | Vesicle transport and fusion |
pHL-5 | STXBP2 | Vesicle transport and fusion |
Sporadic associated with Immunodeficiencies | ||
CHS | LYST | Vesicle transport |
GS-2 | RAB27A | Vesicle docking |
XLP-1/XLP-2 | SH2DIA/BIRC4 | Signal transduction and activation of lymphocytes |
Secondary HLH or Acquired HLH or Reactive HLH | ||
Infections (EBV, Leishmania, H1N1…) | ||
Rheumatic diseases (sJIA…)→MAS or rheuma-HLH | ||
Malignancies (lymphoma…) | ||