Table 2 Clinical and laboratory features of 7 patients referred with suspected macrophage activation syndrome who had abnormal screening results (GRA and XIAP)
Patient | 3 | 4 | 5 | 6 | 7 | 8 | 18 |
Sex | f | f | f | m | f | f | m |
HLH 2004 B clinical criteria | |||||||
 Fever | yes | yes | yes | yes | no | yes | yes |
 Splenomegaly | yes | / | yes | no | no | no | yes |
 Cytopenia at least 2/3 | yes | no | yes | yes | yes | no | yes |
  Hb <90 | yes | yes | yes | yes | yes | yes | no |
  Plt <100 | no | no | yes | yes | yes | no | yes |
  Neut <1 | yes | no | no | no | no | no | yes |
 Hypertriglyceridemia &/or hypofibrinogen | yes | yes | / | no | / | yes | / |
  Triglycerides >265 | yes | yes | / | no | / | yes | / |
  Fibrinogen <1.5 | no | no | no | no | no | no | no |
 Haemophagocytosis in bone marrow, spleen or lymph nodes | no | no | / | no | yes | yes | / |
 Low or absent NK cell activity | / | / | / | / | / | / | / |
 Ferritin >500 ng/ml | yes | yes | yes | yes | yes | yes | no |
 Soluble CD25 >2400units/ml | yes | / | / | / | / | / | / |
 Number of HLH B clinical (2004) | 6 | 3 | 4 | 3 | 3 | 4 | 3 |
 Ferritin ng/ml | 21065 | 1679 | 523 | 6759 | 2801 | 22076 | 38 |
 ALT IU/L | 17 | 17 | 12 | 453 | 6 | 354 | 102 |
 Arthritis | yes | no | no | yes | yes | yes | yes |
 ESR mm/h | 100 | 10 | 78 | 20 | 18 | 120 | 6 |
 CRP mg/L | 48 | 74 | 60 | / | 51 | 87 | 6 |
Screening tests | |||||||
 GRA | abnormal | abnormal | abnormal | abnormal | abnormal | abnormal | normal |
 SAP | / | / | / | normal | / | / | normal |
 XIAP | / | / | / | normal | / | / | absent |
 PERFORIN | normal | normal | normal | normal | / | normal | normal |
 Genetics sent | yes | yes | yes | yes | yes | yes | yes |
 Genetics | no mutation found | c.2335G>A/wt and possible deletion/splicing defect | no mutation found | no mutation found | no mutation found | no mutation found | c.1082C>G (p.Ser361X) |
 Diagnosis | sJIA | primary HLH (FHLH type 3) | primary HLH | overlap syndrome (JDM//SLE/sJIA) | SJIA | SJIA | primary HLH (XLP2) |
 HSCT | no | no | no | no | yes | no | yes |
 Survival | alive | deceased | deceased | alive | alive | alive | alive |