Table 1.
Immunological phenotype of both patients at representative time points
| A. Serum levels of immunoglobulins, antibacterial antibodies and antibodies against vaccination antigens | ||||||||
| Patient 1 (II - 1) | Patient 2 (II - 2) | |||||||
| 22 m | 9 years | 3 years | 8 years | |||||
| IgG (mg/dl) | 585 | (570–1322) | 743 | (790–1700) | 801 | (696–1518) | 943 | (790–1700) |
| IgA (mg/dl) | 114 | (23–97) | 144 | (76–450) | 48 | (46–177) | 43 | (76–450) |
| IgM (mg/dl) | 307 | (76–187) | 247 | (90–350) | 160 | (97–228) | 147 | (90–350) |
| IgG1 (mg/dl) | 497 | (457–734) | 554 | (500–880) | 616 | (400–983) | 732 | (500–880) |
| IgG2 (mg/dl) | <23 | (56–200) | 21 | (150–600) | 60 | (70–400) | 108 | (150–600) |
| IgG3 (mg/dl) | <6 | (20–81) | 22 | (20–100) | 24 | (20–81) | 36 | (20–100) |
| IgG4 (mg/dl) | <8 | (0–40) | <8 | (8–120) | <6 | (0–40) | <7 | (8–120) |
| Tetanus-IgG (IU/ml) | 0,45*3) | (> = 0,40) | 1,57*4) | (> = 0,40) | 0,6*3) | (> = 0,40) | 1,02*5) | (> = 0,40) |
| Diphteria-IgG (IU/ml) | 0,15*3) | (> = 0,40) | 0,17*4) | (> = 0,40) | 0,08*3) | (> = 0,40) | 0,09*5) | (> = 0,40) |
| Pn23-IgG (reciprocal titer) | <20 | (> = 200) | 81*1) | (> = 200) | <20 | (> = 200) | 249*2) | (> = 200) |
| Pn23-IgM (reciprocal titer) | 198 | (> = 100) | 393*1) | (> = 100) | 414 | (> = 100) | 999*2) | (> = 100) |
| Hib-IgG (μg/ml) | 5,41*3) | (> = 1) | 0,17 | (> = 1) | 2,57*3) | (> = 1) | 0,47 | (> = 1) |
| B. Lymphocyte subpopulations | ||||||||
| Patient 1 (II - 1) | Patient 2 (II - 2) | |||||||
| 22 m | 10 year | 3 years | 8 years | |||||
| CD4 (%Ly) | 7 | (31–66) | 22 | (31–66) | 11 | (31–66) | 22 | (31–66) |
| CD4 (abs.Nr/μl) | 430 | (386–2022) | 326 | (386–2022) | 417 | (386–2022) | 554 | (386–2022) |
| CD4 + CD45RA + (%Ly) | 2 | (11–38) | 5 | (11–38) | 4 | (11–38) | 7 | (11–38) |
| CD4 + CD45RA + (abs.Nr/μl) | 95 | (170–1097) | 74 | (170–1097) | 152 | (170–1097) | 176 | (170–1097) |
| CD8 (%Ly) | 35 | (7–41) | 39 | (21–43) | 42 | (7–41) | 49 | (21–43) |
| CD8 (abs.Nr/μl) | 2150 | (107–1175) | 578 | (297–1011) | 1593 | (107–1175) | 1233 | (297–1011) |
| CD8 + CD62L + CD45RA + (% of CD8+) | n.a. | 10,7 | (25–61) | n.a. | 7,8 | (25–61) | ||
| CD19 (%Ly) | 15 | (7–23) | 7 | (7–23) | 18 | (7–23) | 13 | (7–23) |
| CD19 (abs.Nr/μl) | 921 | (71–549) | 104 | (71–549) | 683 | (71–549) | 327 | (71–549) |
| CD56 (%Ly) | 25 | (6–29) | 29 | (6–29) | 34 | (6–29) | 25 | (6–29) |
| CD56 (abs.Nr/μl) | 1536 | (98–680) | 430 | (98–680) | 1289 | (98–680) | 629 | (98–680) |
| CD3 (%Ly) | 10 | (53–85) | 54 | (53–85) | 30 | (53–85) | 62 | (53–85) |
| CD3 (abs.Nr/μl) | 614 | (694–2976) | 800 | (694–2976) | 1138 | (694–2976) | 1560 | (694–2976) |
| HLA-DR (%Ly) | 82 | (4–18) | 48 | (10–36) | 53 | (10–36) | 74 | (10–36) |
| HLA-DR (abs.Nr/μl) | 5036 | (75–505) | 711 | (200–800) | 2010 | (200–800) | 1862 | (200–800) |
| CD3 + HLA-DR (%Ly) | 7 | (1–8) | 23 | (2–12) | 13 | (2–12) | 44 | (2–12) |
| CD3 + HLA-DR (abs.Nr/μl) | 430 | (19–219) | 341 | (20–250) | 493 | (20–250) | 1107 | (20–250) |
| C. Lymphoproliferative response to mitogenic stimulation (3H-thymidine incorporation) | ||||||||
| Patient 1 (II - 1) | Patient 2 (II - 2) | |||||||
| 22 m | 10 year | 3 years | 8 years | |||||
| PHA 1.6μg (dpm) | 10135 | (> = 30000) | 101821 | (> = 20000) | 25678 | (> = 20000) | 72068 | (> = 20000) |
| CON A 1.2μg (dpm) | 1415 | (> = 5200) | 69767 | (> = 5000) | 42126 | (> = 5000) | 63988 | (> = 5000) |
| PWM 1:100 (dpm) | 7450 | (> = 40000) | 45225 | (> = 20000) | 4599 | (> = 20000) | 47075 | (> = 20000) |
| Medium (dpm) | 183 | (<=600) | 60 | (<=400) | 75 | (<=400) | 109 | (<=400) |
| D. B-cell subpopulations | ||||||||
| Patient 1 (II - 1) | Patient 2 (II - 2) | |||||||
| 15 years | 11 year | |||||||
| CD38+ CD24+ transitional B-cells (%CD19) | 3,8 | (3,9–7,8) | 10,7 | (3,9–7,8) | ||||
| CD27-IgD+ naïve B-cells (%CD19) | 76,3 | (75,2–86,7) | 70,1 | (75,2–86,7) | ||||
| CD27+ IgD+ non-switched memory B-cells (%CD19) | 7,6 | (4,6–10,2) | 9,3 | (4,6–10,2) | ||||
| CD27+ IgD- switched memory B-cells (%CD19) | 10,9 | (3,3–9,6) | 13,3 | (3,3–9,6) | ||||
| CD27-IgD- memory B-cells (%CD19) | 5,2 | (2,3–5,5) | 7,2 | (2,3–5,5) | ||||
| CD24-CD38+ plasmablasts (%CD19) | 2,2 | (0,3–1,7) | 1,3 | (0,3–1,7) | ||||
Pn23, 23-valent pneumococcal polysaccharide vaccine; HiB Haemophilus influenzae Type B
%Ly, percentage of lymphocytes; abs.Nr/μl, absolute number/μl blood; n.a. = data not available
PHA phytohaemagglutinin; CON A Concanavalin A; PWM Pokeweed-Mitogen; dpm, disintegrations per minute
%CD19, percentage of CD19+ cells
Normal ranges are indicated in brackets, next to patient values
*1) measured following three vaccinations with Pn23 at the age of 5, 7 and 8 years
*2) measured following two vaccinations with Pn23 at the age of 3,5 and 7 years
*3) measured following four vaccinations
*4) measured 3 months after tetanus-diphtheria booster vaccination
*5) measured following a total of six vaccinations against tetanus and diphtheria