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Table 1.
Immunological features of PBMCs from the patient and his sister
PatientSister
Age-matched normal values10/12/14 yr6/10 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 
CCR7CD27CD45RA/CD8+ (effector memory; %) (11/20) 67/48/67 17/21 
CCR7+CD27CD45RA+/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 
IgDIgM/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 
PatientSister
Age-matched normal values10/12/14 yr6/10 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 
CCR7CD27CD45RA/CD8+ (effector memory; %) (11/20) 67/48/67 17/21 
CCR7+CD27CD45RA+/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 
IgDIgM/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.

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