| . | Patient . | Sister . | |
|---|---|---|---|
| Age-matched normal values . | 10/12/14 yr . | 6/10 yr . | |
| Leukocytes (cells mm−3) | (4,400–15,500) | 6,800/ND/4,900 | 6,600/6,000 |
| Neutrophils (cells mm−3) | (1,800–8,000) | 1,400/ND/2,200 | 3,800/ND |
| Monocytes (cells mm−3) | (200–1,000) | 400/ND/200 | 400/ND |
| Lymphocytes (cells mm−3) | (1,900–3,700) | 1,900/2,000/2,200 | 2,100/1,543 |
| T cells | |||
| CD3+ (cells mm−3) | (1,200–2,600) | 1,501/1,440/1,474 | 1,596/1,096 |
| CD4+ (cells mm−3) | (650–1,500) | 1,102/1,140/1,056 | 987/663 |
| CD8+ (cells mm−3) | (370–1,100) | 342/260/396 | 462/370 |
| CD4/CD8 ratio | (0.9–2.6) | 3.2/4.4/2.7 | 2.1/2.9 |
| TCRγ/δ (%) | (0.2–14) | 4/ND/ND | 1.4/ND |
| CD31+CD45RA+/CD4+ (recent naive thymic emigrant; %) | (43–55) | 23/35/34 | 50 |
| CD45RO+/CD4+ (memory; %) | (13/30) | 69/53/52 | 32/40 |
| CCR7+CD45RA+/CD8+ (naive; %) | (52/68) | 23/29/25 | 62/58 |
| CCR7+CD45RA−/CD8+ (central memory; %) | (2–4) | 6/5/4 | 4/4.5 |
| CCR7−CD27−CD45RA−/CD8+ (effector memory; %) | (11/20) | 67/48/67 | 17/21 |
| CCR7+CD27−CD45RA+/CD8+ (exhausted effector memory; %) | (1–18) | 6/18/8 | 0.7 |
| CD127lowCD25+/CD4+ (regulatory; %) | (4–20) | 5.2/ND/ND | 6.6/ND |
| Va7.2+CD161+/CD3+ (MAIT; %) | (1–8) | 0.2/0.7/0.1 | 2.9/ND |
| Va24+Vb11+CD161+/CD3+ (iNKT; %) | (>0.02) | 0.06/0.09/0.05 | 0.03/ND |
| T cell proliferation (cpm 10−3) | |||
| PHA (6.25 mg ml−1) | (>50) | 150/ND/ND | 75/ND |
| OKT3 (10 ng ml−1) | (>30) | 65.5/ND/ND | ND |
| Candida | (>10) | 23/ND/ND | ND |
| Tetanus toxoid | (>10) | 12/ND/ND | ND |
| NK cells | |||
| CD16+CD56+ (cells mm−3) | (100–480) | 57/40/2 | 147/123 |
| CD16+CD56+ (%) | (4–17) | 3/2/1 | 7/8 |
| B cells | |||
| CD19+ (cells mm−3) | (270–860) | 342/520/704 | 357/332 |
| CD19+ (%) | (13–27) | 18/26/32 | 17/23 |
| CD21+CD27+/CD19+ (memory; %) | (>10) | 2/1/1 | 3/1 |
| IgD−IgM−/CD19+ CD21+CD27+ (switched; %) | (21–49) | ND/0.3/0.2 | ND |
| Ig levels (g liter−1; 16 yr old) | |||
| IgG | (6.6–12.8) | 13.9/14.21/8.92 | ND/12.5 |
| IgM | (0.5–2.1) | 0.99/0.74/0.28 | ND/0.27 |
| IgA | (0.7–3.4) | 0.69/0.56/0.45 | ND/0.81 |
| . | Patient . | Sister . | |
|---|---|---|---|
| Age-matched normal values . | 10/12/14 yr . | 6/10 yr . | |
| Leukocytes (cells mm−3) | (4,400–15,500) | 6,800/ND/4,900 | 6,600/6,000 |
| Neutrophils (cells mm−3) | (1,800–8,000) | 1,400/ND/2,200 | 3,800/ND |
| Monocytes (cells mm−3) | (200–1,000) | 400/ND/200 | 400/ND |
| Lymphocytes (cells mm−3) | (1,900–3,700) | 1,900/2,000/2,200 | 2,100/1,543 |
| T cells | |||
| CD3+ (cells mm−3) | (1,200–2,600) | 1,501/1,440/1,474 | 1,596/1,096 |
| CD4+ (cells mm−3) | (650–1,500) | 1,102/1,140/1,056 | 987/663 |
| CD8+ (cells mm−3) | (370–1,100) | 342/260/396 | 462/370 |
| CD4/CD8 ratio | (0.9–2.6) | 3.2/4.4/2.7 | 2.1/2.9 |
| TCRγ/δ (%) | (0.2–14) | 4/ND/ND | 1.4/ND |
| CD31+CD45RA+/CD4+ (recent naive thymic emigrant; %) | (43–55) | 23/35/34 | 50 |
| CD45RO+/CD4+ (memory; %) | (13/30) | 69/53/52 | 32/40 |
| CCR7+CD45RA+/CD8+ (naive; %) | (52/68) | 23/29/25 | 62/58 |
| CCR7+CD45RA−/CD8+ (central memory; %) | (2–4) | 6/5/4 | 4/4.5 |
| CCR7−CD27−CD45RA−/CD8+ (effector memory; %) | (11/20) | 67/48/67 | 17/21 |
| CCR7+CD27−CD45RA+/CD8+ (exhausted effector memory; %) | (1–18) | 6/18/8 | 0.7 |
| CD127lowCD25+/CD4+ (regulatory; %) | (4–20) | 5.2/ND/ND | 6.6/ND |
| Va7.2+CD161+/CD3+ (MAIT; %) | (1–8) | 0.2/0.7/0.1 | 2.9/ND |
| Va24+Vb11+CD161+/CD3+ (iNKT; %) | (>0.02) | 0.06/0.09/0.05 | 0.03/ND |
| T cell proliferation (cpm 10−3) | |||
| PHA (6.25 mg ml−1) | (>50) | 150/ND/ND | 75/ND |
| OKT3 (10 ng ml−1) | (>30) | 65.5/ND/ND | ND |
| Candida | (>10) | 23/ND/ND | ND |
| Tetanus toxoid | (>10) | 12/ND/ND | ND |
| NK cells | |||
| CD16+CD56+ (cells mm−3) | (100–480) | 57/40/2 | 147/123 |
| CD16+CD56+ (%) | (4–17) | 3/2/1 | 7/8 |
| B cells | |||
| CD19+ (cells mm−3) | (270–860) | 342/520/704 | 357/332 |
| CD19+ (%) | (13–27) | 18/26/32 | 17/23 |
| CD21+CD27+/CD19+ (memory; %) | (>10) | 2/1/1 | 3/1 |
| IgD−IgM−/CD19+ CD21+CD27+ (switched; %) | (21–49) | ND/0.3/0.2 | ND |
| Ig levels (g liter−1; 16 yr old) | |||
| IgG | (6.6–12.8) | 13.9/14.21/8.92 | ND/12.5 |
| IgM | (0.5–2.1) | 0.99/0.74/0.28 | ND/0.27 |
| IgA | (0.7–3.4) | 0.69/0.56/0.45 | ND/0.81 |
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 NK cells from PBMCs (tested by flow cytometry), T cell proliferation in response to different stimuli (evaluated by incorporation of [3H]thymidine), and serum (Ig subclasses). Values in bold correspond to values below the age-matched normal values. MAIT, mucosal-associated invariant T cell.