Table 2.
Routine laboratory investigations
| Laboratory results | Patient IV.1 | Patient IV.2 | Patient IV.6 |
|---|---|---|---|
| Neutrophil count x109/L, Median (range) | Pediatric: 0.5 (0.11–2.25) | Pediatric: 0.31 (0.09–1.76) | Pediatric: 1.39 (0.8–6.2) |
| Adult: 0.34(0.24–1.77)a | Adult 2.385 (0.4–4.57)a | Adult: 1.65 (0.67–17.2) | |
| Lymphocyte x109/L, median (range) | 2.95 (1.59–3.27) | 2.4 (1.2–8.5) | 0.49 (0.14–2.17) |
| Platelet counts, x109/L, median (range) | 498 (344–777) | 392 (179–738) | 498 (150–1074) |
| Hb g/L, median (range) | 108 (84–130) | 100 (77–127) | 97 (58–147) |
| Bone marrow | Pediatric: Unremarkable with no maturation arrest | Pediatric: marked left-shifted granulopoiesis and active erythropoiesis and megakaryopoiesis | – |
| Adult: hypoplastic myelopoiesis and left shift with abnormal segmentation of myeloid precursors | Adult: myeloid hyperplasia, left shifted and minimal maturation and some with increased granulation | Adult: Left shifted myelopoiesis | |
| Bone marrow karyotype | 46, XX | 46, XX | 46, XX |
| IgA (normal: 0.7 - 4 g/L) | 1.9 | 2.93 | 1.72 |
| IgG (normal: 7–16 g/L) | 27.8 | 56.6 | 23.3 |
| IgM (normal: 0.4-2.3 g/L) | 0.63 | 0.77 | 2.5 |
| IgE (normal: 5–500 KU/L) | <2 | <2 | 2.5 |
| T-cell subsets | Normal T-cell subsets | T-cell lymphopenia; intact expression of MHC class I and Il antigens | Absolute CD3+, CD4+, and CD8+ T-cell lymphopenia |
a
Initial (pediatric) studies were done in early childhood (3–5 years of age). Follow-up (adult) studies were done between 14 and 17 years of age.