Table 1.
Immunological features of PBMCs from the CD70-deficient patient
Age-matched normal values5 yr/9 yr
Leukocytes (cells × mm−34,400–15,500 7,000/7,200 
Neutrophils (cells × mm−31,800–8,000 4,200/4,600 
Monocytes (cells × mm−3200–1,000 500/900 
Lymphocytes (cells × mm−31,900–3,700 2,100/2,300 
T cells   
CD3+ (cells × mm−31,200–2,600 1,617/1,863 
CD4+ (cells × mm−3650–1,500 672/805 
CD8+ (cells × mm−3370–1,100 714/644 
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 
CCR7CD27CD45RA/CD8+ (effector memory; %) 11–20 10/11 
CCR7+CD27CD45RA+/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−3100–480 63/92 
CD16+CD56+ (%) 4–17 3/4 
B cells   
CD19+ (cells × mm−3270–860 399/322 
CD19+ (%) 13–27 22/17 
CD21+CD27+/CD19+ (memory; %) >10 3/1 
IgD+IgM+/CD19+CD21+CD27+ (marginal zone; %) 31–51 26/NA 
IgDIgM/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 
Age-matched normal values5 yr/9 yr
Leukocytes (cells × mm−34,400–15,500 7,000/7,200 
Neutrophils (cells × mm−31,800–8,000 4,200/4,600 
Monocytes (cells × mm−3200–1,000 500/900 
Lymphocytes (cells × mm−31,900–3,700 2,100/2,300 
T cells   
CD3+ (cells × mm−31,200–2,600 1,617/1,863 
CD4+ (cells × mm−3650–1,500 672/805 
CD8+ (cells × mm−3370–1,100 714/644 
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 
CCR7CD27CD45RA/CD8+ (effector memory; %) 11–20 10/11 
CCR7+CD27CD45RA+/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−3100–480 63/92 
CD16+CD56+ (%) 4–17 3/4 
B cells   
CD19+ (cells × mm−3270–860 399/322 
CD19+ (%) 13–27 22/17 
CD21+CD27+/CD19+ (memory; %) >10 3/1 
IgD+IgM+/CD19+CD21+CD27+ (marginal zone; %) 31–51 26/NA 
IgDIgM/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.

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