Table 1. Immunological features of PBMCs from the CD70-deficient patient.
| Age-matched normal values | 5 yr/9 yr | |
|---|---|---|
| Leukocytes (cells × mm−3) | 4,400–15,500 | 7,000/7,200 |
| Neutrophils (cells × mm−3) | 1,800–8,000 | 4,200/4,600 |
| Monocytes (cells × mm−3) | 200–1,000 | 500/900 |
| Lymphocytes (cells × mm−3) | 1,900–3,700 | 2,100/2,300 |
| T cells | ||
| CD3+ (cells × mm−3) | 1,200–2,600 | 1,617/1,863 |
| CD4+ (cells × mm−3) | 650–1,500 | 672/805 |
| CD8+ (cells × mm−3) | 370–1,100 | 714/644 |
| CD4/CD8 ratio | 0.9–2.6 | 1.7/1.3 |
| TCRα/β (%) | 26–85 | 68/65 |
| TCRγ/δ (%) | 0.2–14 | 8/8 |
| CD31+CD45RA+/CD4+ (recent naive thymic emigrant; %) | 43–55 | 52/56 |
| CD45RO+/CD4+ (memory; %) | 13–30 | 19/22 |
| CCR7+CD45RA+/CD8+ (naïve; %) | 52–68 | 32/36 |
| CCR7+CD45RA−/CD8+ (central memory; %) | 2–4 | 2/2.5 |
| CCR7−CD27−CD45RA−/CD8+ (effector memory; %) | 11–20 | 10/11 |
| CCR7+CD27−CD45RA+/CD8+ (exhausted effector memory; EMRA; %) | 1–18 | 0.2/10 |
| CD127lowCD25+/ CD4+ (regulatory; %) | 2–8 | 3/5 |
| Va7+CD161+/CD3+ (MAIT; %) | 1–8 | 0.3/0.4 |
| Va24+Vb11+CD161+/CD3+ (iNKT; %) | >0.02 | 0.006/0.004 |
| T cell proliferation (cpm × 10−3) | ||
| PHA (6.25 mg ml−1) | >50 | 58.5/132 |
| OKT3 (50 ng ml−1) | >30 | 90/79.5 |
| Tetanus toxoid | >10 | 15.5/49 |
| NK cells | ||
| CD16+CD56+ (cells × mm−3) | 100–480 | 63/92 |
| CD16+CD56+ (%) | 4–17 | 3/4 |
| B cells | ||
| CD19+ (cells × mm−3) | 270–860 | 399/322 |
| CD19+ (%) | 13–27 | 22/17 |
| CD21+CD27+/CD19+ (memory; %) | >10 | 3/1 |
| IgD+IgM+/CD19+CD21+CD27+ (marginal zone; %) | 31–51 | 26/NA |
| IgD−IgM−/CD19+ CD21+CD27+ (switched; %) | 21–49 | 38/NA |
| Immunoglobulin levels (g × L-1; 5 yr old) | ||
| IgG (1/2/3) | 4/0.4/0.17 | 5/0.45/0.81 |
| IgM | 0.5–1.1 | 0.51 |
| IgA | 0.7–1.3 | 0.12 |
Different immunological parameters of the patient were tested from blood and PBMCs: numbers of blood cell populations, different T cell subsets, B cell subsets, and natural killers from PBMCs (tested by flow cytometry), T cell proliferation in response to different stimuli (evaluated by incorporation of [3H]thymidine), and serum (immunoglobulin subclasses). Values in bold correspond to values below the age-matched normal values. MAIT, mucosal-associated invariant T cell.