Immune phenotype of patient 1, 2, and 3
| Patient 1 (6 yr) | Patient 2 (8 yr) | Patient 3 (2 yr) | ||||||||||
| Relative counts | Reference values | Absolute | Reference values | Relative counts | Reference values | Absolute | Reference values | Relative counts | Reference values | Absolute | Reference values | |
| Lymphocytes a | 1,855 | 1,800–5,000 | 900 | 1,800–5,000 | 4,950 | 2,800–6,400 | ||||||
| B cells a | 2.0 | 8.5–20.2 | 37 | 296–784 | 3.8 | 8.5–20.2 | 34 | 296–784 | 29.9 | 17.3–30.0 | 1,480 | 686–1,732 |
| CD4 a | 4.0 | 26.5–41.4 | 74 | 641–1,453 | 24.5 | 26.5–41.4 | 220 | 641–1,453 | 6.4 | 28.1–43.2 | 317 | 925–2,477 |
| CD8 b | 45.0 | 13–47 | 834 | 200–1,700 | 38.3 | 13–47 | 345 | 200–1,700 | 4.5 | 9–49 | 223 | 200–1,800 |
| NK cells b | 6.0 | 2–31 | 114 | 70–590 | 1.7 | 2–31 | 16 | 70–590 | 0.9 | 2–25 | 45 | 61–510 |
| B cell subpopulations a | ND | ND | ND | ND | ||||||||
| Transitional | 21.1 | 3.4–9.0 | 5 | 13–63 | ||||||||
| Naive | 68.7 | 47.8–69.8 | 23 | 154–413 | ||||||||
| IgM memory | 3.5 | 6.3–22 | 2 | 24–135 | ||||||||
| IgM only | 0.7 | 2–11.8 | 1 | 7–65 | ||||||||
| IgA cs memory | 0 | 1.1–6.1 | 0 | 5–35 | ||||||||
| IgG cs memory | 0 | 2.7–14 | 0 | 13–74 | ||||||||
| CD21low | 6.3 | |||||||||||
| CD4 subpopulations a | ND | ND | ND | ND | ||||||||
| RTEc | 24.4 | 61–84.2 | 1 | |||||||||
| Naive | 2.4 | 55.6–75.8 | 5 | 375–1,096 | ||||||||
| CD45R0 | 97.5 | 24–43 | ||||||||||
| T reg cells | 2.0 | 2.3–7.7 | 5 | 18–86 | ||||||||
| cTFHd | 35.0 | 18.4–29.9 | 112 | 51–218 | ||||||||
| Th2+Th17-like cTFHd | 29.4 | 39.9–66.1 | 33 | 26–85 | ||||||||
| CD8 subpopulations b | ND | ND | ND | ND | ||||||||
| Naive | 0.3 | 16–100 | 1 | 42–1,300 | ||||||||
| Central memory | 2.4 | 1–6 | 8 | 6–43 | ||||||||
| Effector memory | 65.9 | 5–100 | 227 | 45–410 | ||||||||
| Terminally differentiated | 1.6 | 15–41 | 6 | 57–340 | ||||||||
| γδ T cells e | ND | ND | 37.2 | <10 | 282 | 12–175 | 72 | <10 | 2,217 | 12–175 | ||
| DN T cells e | 51 | 38 | 72 | |||||||||
| NK T cells e | ND | ND | 0.005 | >0.01 | ND | ND | ND | |||||
| Patient 1 (6 yr) | Patient 2 (8 yr) | Patient 3 (2 yr) | ||||||||||
| Relative counts | Reference values | Absolute | Reference values | Relative counts | Reference values | Absolute | Reference values | Relative counts | Reference values | Absolute | Reference values | |
| Lymphocytes a | 1,855 | 1,800–5,000 | 900 | 1,800–5,000 | 4,950 | 2,800–6,400 | ||||||
| B cells a | 2.0 | 8.5–20.2 | 37 | 296–784 | 3.8 | 8.5–20.2 | 34 | 296–784 | 29.9 | 17.3–30.0 | 1,480 | 686–1,732 |
| CD4 a | 4.0 | 26.5–41.4 | 74 | 641–1,453 | 24.5 | 26.5–41.4 | 220 | 641–1,453 | 6.4 | 28.1–43.2 | 317 | 925–2,477 |
| CD8 b | 45.0 | 13–47 | 834 | 200–1,700 | 38.3 | 13–47 | 345 | 200–1,700 | 4.5 | 9–49 | 223 | 200–1,800 |
| NK cells b | 6.0 | 2–31 | 114 | 70–590 | 1.7 | 2–31 | 16 | 70–590 | 0.9 | 2–25 | 45 | 61–510 |
| B cell subpopulations a | ND | ND | ND | ND | ||||||||
| Transitional | 21.1 | 3.4–9.0 | 5 | 13–63 | ||||||||
| Naive | 68.7 | 47.8–69.8 | 23 | 154–413 | ||||||||
| IgM memory | 3.5 | 6.3–22 | 2 | 24–135 | ||||||||
| IgM only | 0.7 | 2–11.8 | 1 | 7–65 | ||||||||
| IgA cs memory | 0 | 1.1–6.1 | 0 | 5–35 | ||||||||
| IgG cs memory | 0 | 2.7–14 | 0 | 13–74 | ||||||||
| CD21low | 6.3 | |||||||||||
| CD4 subpopulations a | ND | ND | ND | ND | ||||||||
| RTEc | 24.4 | 61–84.2 | 1 | |||||||||
| Naive | 2.4 | 55.6–75.8 | 5 | 375–1,096 | ||||||||
| CD45R0 | 97.5 | 24–43 | ||||||||||
| T reg cells | 2.0 | 2.3–7.7 | 5 | 18–86 | ||||||||
| cTFHd | 35.0 | 18.4–29.9 | 112 | 51–218 | ||||||||
| Th2+Th17-like cTFHd | 29.4 | 39.9–66.1 | 33 | 26–85 | ||||||||
| CD8 subpopulations b | ND | ND | ND | ND | ||||||||
| Naive | 0.3 | 16–100 | 1 | 42–1,300 | ||||||||
| Central memory | 2.4 | 1–6 | 8 | 6–43 | ||||||||
| Effector memory | 65.9 | 5–100 | 227 | 45–410 | ||||||||
| Terminally differentiated | 1.6 | 15–41 | 6 | 57–340 | ||||||||
| γδ T cells e | ND | ND | 37.2 | <10 | 282 | 12–175 | 72 | <10 | 2,217 | 12–175 | ||
| DN T cells e | 51 | 38 | 72 | |||||||||
| NK T cells e | ND | ND | 0.005 | >0.01 | ND | ND | ND | |||||
Relative counts are shown as a percentage of parental population. Absolute numbers refer to cells/microliter. CD4 T cell subpopulations: recent thymic emigrants (RTEs), CD31+ of CD45RA+ CD4 T cells; T reg cells, CD127− CD25hi of CD45RA− CD4 T cells; circulating T follicular helper–like cell (cTFH), CXCR5+ of CD45RA− CD4 T cells; Th2/Th17-like cTFH, CXCR3− of CXCR5+ CD45RA− CD4 T cells. CD8 T cell populations: naive, CCR7+ CD45RA+ CD27+; terminally differentiated, CCR7− CD45RA+ CD27−; central memory, CCR7+ CD45RA− CD27+; effector memory, CCR7− CD45RA− CD27−. Double-negative (DN) T cells, CD4−/CD8− of CD3 T cells. NK T cells, Vα24 Vβ11 CD3 T cells. cs, class switched.
van Gent et al., 2009.
Schatorjé et al., 2012.
Percentage of naive CD4 T cells.
Internal reference value.
Internal reference value of CD3 T cells.