TABLE 1.
Laboratory characteristics of patients during the first year of life (patient 1 and 2) and at age 4 (patient 1). Age-matched reference ranges (in square brackets) are provided for both patients
| Value | Patient 1 | Patient 2 | Patient 1 |
|---|---|---|---|
| Age when blood tests were performed (months) | 12 | 2 | 48 |
| Complete blood count | |||
| WBC (K/micl) | 33.7 [6.1–13] | 13.8 [7.2–18] | 15.3 [5.2–11] |
| Hemoglobin (g/dl) | 9.5 [10.5–14] | 11.3 [10.5–14] | 13.5 [11–14.5] |
| Platelets (K/micl) | 46 [150–400] | 76 [150–400] | 42 [150–400] |
| Lymphocyte Subsetsa (cells per microliter ×10−3) | |||
| Lymphocytes | 11.6 [3.6–8.9] | 6.1 [3.4–7.6] | 7.1 [2.3–5.4] |
| T (CD3+) | 1.29 [2.1–6.2] | 2.6 [2.5–5.5] | 1.77 [1.4–3.7] |
| T helper (CD4+) | 1.15 [1.3–3.4] | 1.7 [1.6–4] | 1.56 [0.7–2.2] |
| T cytotoxic (CD8+) | 0.54 [0.6–2] | 0.5 [0.6–1.7] | 0.21 [0.49–1.3] |
| CD3+αβ+ | ND | ND | 28% [>20%] |
| CD3+γδ+ | ND | ND | 9% [<5%] |
| CD20+ | 7.57 [0.7–2.6] | 3.02 [0.3–2] | 4.54 [0.4–1.4] |
| CD20+ (%) | 70% [16–35%] | 44% [6–32%] | 52% [5–25%] |
| CD56+ | 0.216 [0.2–0.9] | 0.36 [0.17–1.1] | 0.55 [0.15–0.5] |
| T cell proliferation (cpmb) | |||
| PHA 6 μg/ml | ND | 26300 [56000] | 81000 [84000] |
| PHA 25 μg/ml | ND | 59040 [100000] | 128000] 120000] |
| Anti-CD3 | ND | 4200 [13000] | 37000] 10400] |
| TREC | ND | 258 [> 400] | 0 [> 400] |
| Serum Ig | |||
| IgM (mg/dl) | 103 [40–170] | 97 [17–105] | 742 [40–200] |
| IgA (mg/dl) | 761 [10–100] | 86 [2–50] | 625 [33–230] |
| IgG (mg/dl) | 1750 [170–1000] | 930 [250–900] | 3100 [600–1500] |
| IgE (IU/ml) | 3590 [0–100] | 1790 [0–100] | ND |
CPM - Counts Per Minute; PHA – phytohaemagglutinin. ND –not done
a
control numbers represents 50–100 healthy donors, ages 1–2 years, with percentages/counts presented as median (10th and 90th percentiles) (depicted from ref 33)
b
H3-thymidine uptake in response to mitogens.