Table 1.
Comparison of clinical and laboratory markers in the two twins carrying the same UNC13D mutation.
| Patient 1 | Patient 2 | |
|---|---|---|
| UNC13D mutation | Homozygous 1847A>G | Homozygous 1847A>G |
| Age at onset | 6.2 years | 3 years |
| Symptoms at the onset | Fever and severe dyspnea | Pervasive developmental disorder |
| Fever | Yes | No |
| Splenomegaly | Yes | Yes |
| CNS involvement | No | Yes |
| Lung involvement | Massive bilateral consolidations | Signs of pulmonary hypertension |
| WBC (cells/mm3) | 800 | 7,750 |
| Neutrophil count (cells/mm3) | 430 | 5,450 |
| Lymphocyte count (cells/mm3) | 320 | 1,880 |
| Platelet count (cells/mm3) | 27,000 | 241,000 |
| Hemoglobin levels (g/dL) | 7.8 | 14.9 |
| Fibrinogen (mg/dL) | 89 | n.a. |
| Triglycerides (mg/dL) | 1,556 | 110 |
| Ferritin (ng/mL) | 2,550 | 84 |
| Albumin (gr/dL) | 2.4 | 5 |
| IgG/IgA/IgM (mg/dL) | 315/46/58 | 487/45/120 |
| IgE (IU/mL) | 249 | n.a. |
| CD3+ % (cells/mm3) | 57% (182) | 77.5% |
| CD4+ % (cells/mm3) | 34% (109) | 33% |
| CD8+ % (cells/mm3) | 13% (42) | 33.2% |
| CD19+ % (cells/mm3) | 8% (26) | 21% |
| CD16+ CD56+ % (cells/mm3) | 22% (70) | 1.5% |
| CD4+ CD45RA+ % (cells/mm3) | n.a. | 6.6% |
| CD4+ CD45RO+ % (cells/mm3) | n.a. | 26.4% |
| CD8+ CD45RA+ | n.a. | 14.9% |
| CD8+ CD45RO+ | n.a. | 18.3% |
| CD3+ HLADR+ | 27% | n.a. |
| Granule release assay | n.a. | Absent degranulation |
| Perforin expression | n.a. | Normal |
| Bone marrow aspirate | Hypocellularity | Lymphohistiocytic infiltration |
CNS, central nervous system; WBC, white blood cells; n.a., not available.