From: Intravenous administration of anakinra in children with macrophage activation syndrome
Patient 15 | Patient 16 | Patient 17 | Patient 18 | Patient 19 | |
---|---|---|---|---|---|
Familial Genetic Panel | Negative | Negative | Heterozygous mutation: UNC13D C753 + 1 G > T | Negative | Heterozygous mutations: STXBP2 T248M LYST R3412H |
Fever > 7 days | Yes | Yes | Yes | Yes | Yes |
Splenomegaly | No | No | No | Yes | No |
Cytopenia’s (> 2 lineages)x | No | No | Yes | Yes | Yes |
Hypertriglyceridemia (> 265 mg/dl) or Hypofibrinogenemia (< 150 mg/dL) | Yes | Yes | Yes | Yes | Yes |
Hemophagocytes on bone marrow | Yes | Yes | Not done | Yes | No |
Low NK cell activity | No | Yes | Yes | Yes | No |
Ferritin > 500 micrograms/ L | Yes | Yes | Yes | Yes | Yes |
Soluble CD25 > 2400 U/mL | Yes | Yes | No | No | Yes |