Table 2.
Clinical data for patients with HLHa
| Patient | Primary diagnosis | Neopterin level at diagnosis (nmol/liter) | Fever | Splenomegaly | Cytopenias | Increased triglycerides | Decreased fibrinogen | Increased ferritin | Increased D-dimer | Hemophagocytosis | sCD25 | Decreased NK cell activity | Gene mutationb | Stem cell transplant | Statusc |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | AHLH | 26.4 | + | + | + | + | − | + | + | + | + | + | − | + | A |
| 2 | AHLH | 39.7 | − | + | + | + | − | − | + | + | + | − | − | 0 | A |
| 3 | SJIA | 87 | + | + | + | + | + | + | + | NA | NA | NA | NA | 0 | A |
| 4 | SLE | 23.2 | + | + | − | NA | NA | + | NA | NA | NA | NA | NA | 0 | A |
| 5 | AHLH | 250 | + | − | + | + | + | + | + | + | − | + | − | 0 | A |
| 6 | XLP | 71.5 | + | + | + | + | − | + | + | + | + | − | SH2D1A | + | A |
| 7 | AHLH | 72 | + | + | + | + | + | + | NA | NA | + | + | − | + | A |
| 8 | SJIA | NA | + | + | + | NA | − | + | + | NA | + | NA | − | 0 | A |
| 9 | SJIA | 34.4 | − | − | + | NA | NA | NA | − | − | NA | NA | NA | 0 | A |
| 10 | SLE | 36 | + | − | + | + | − | + | + | NA | NA | NA | NA | 0 | A |
| 11 | SJIA | 86.2 | + | + | + | + | − | + | + | NA | NA | NA | NA | 0 | A |
| 12 | JIA | 34 | + | − | + | + | − | + | + | + | NA | NA | NA | 0 | A |
| 13 | SJIA | 48.2 | + | − | + | − | NA | + | NA | NA | NA | NA | NA | 0 | A |
| 14 | MCTD | 32.2 | + | − | − | + | NA | + | + | NA | NA | NA | NA | 0 | A |
| 15 | AHLH | 63.9 | + | + | + | + | − | + | NA | + | − | + | − | 0 | A |
| 16 | SJIA | 347.7 | + | + | + | + | + | NA | NA | − | NA | NA | NA | 0 | A |
| 17 | Sarcoid | 94.7 | + | + | + | + | − | + | + | + | NA | NA | − | 0 | D |
| 18 | SJIA | 96 | + | − | + | + | + | + | + | NA | NA | NA | NA | 0 | A |
| 19 | KD/FHLH | 98.5 | + | + | + | + | − | − | + | + | + | + | RAB27A | + | A |
| 20 | FHLH | 71.8 | + | − | + | + | − | + | + | NA | NA | NA | UNC13D | 0 | D |
| 21 | AHLH | 63.8 | + | − | + | NA | + | + | + | − | + | − | − | 0 | A |
a
Characteristics are indicated as present (+) or absent (−). Abbreviations: NA, not available; AHLH, acquired HLH; SJIA, systemic juvenile idiopathic arthritis; SLE, systemic lupus erythematous; XLP, X-linked lymphoproliferative syndrome; JIA, juvenile idiopathic arthritis; MCTD, mixed connective tissue disorder; KD, Kikuchi disease; FHLH, familial HLH.
b
The gene mutation is identified if present.
c
A, alive; D, dead.