Criteria

• Primary
  • vesicle mutations: PRF1 (perforin), UNC13D, STXBP2, RAB27A, STX11 (syntaxin11), SH2D1A, XIAP
  • r/o malignancy
• Secondary: infection, malignancy, rheumatic disease
  • 5/8 of the following:
  • fever
  • splenomegaly
  • 2+ cytopenias: Hb < 9, plt < 100, ANC < 1
  • TG > 265 mg/dL, fibrinogen < 150 mg/dL
  • hemophagocytosis in marrow, spleen or node
  • low NK activity
  • ferritin > 500 ng/mL
  • soluble CD25/IL2R > 2400 U/mL or > 2 STD of norm