Table 1.
Immunological evaluation of the index PS patient
| Patient code | Index patient | Normal range for age (index patient) | Published patient [8] |
| Sex | Female | Male | |
| Age (onset) | 2 years | n.a. | |
| Age (evaluation) | 14 years | 10 years | |
| IgG (mg/dl) | 1110 | (604–1909) | 280 |
| IgA (mg/dl) | 100 | (61–301) | 40 |
| IgM (mg/dl) | 105 | (59–297) | 50 |
| Anti-tetanus toxoid antibodies (UI/ml) | 0,15 | ||
| Anti-diphtheria antibodies (UI/ml) | 0,12 | ||
| Total lymphocyte count (/mm3) | 736 ↓↓ | (1340–3173) | 470 |
| T cell counts/ml | 437 ↓↓ | (954–2332) | 100 |
| B cell counts/ml | 164 ↓ | (173–685) | 100 |
| % (absolute cell number/μl) | Normal percentage range for age (range of absolute cell number/μl for age) (index patient) | ||
| T cells (CD3+) | 59,3 ↓ (437 ↓↓) | 60,5–79,8 (954–2332) | n.a. |
| CD3+CD4+ | 43,2 (318 ↓↓) | 30,3–48,3 (635–1334) | n.a. |
| Naive (CD45RA+CCR7+) | 49,9 (159 ↓) | 34,3–74,6 (276–828) | n.a. |
| RTE (CD45RA+CCR7+CD31+) | 39,9 (127) | 21,1–63,5 (21–699) | n.a. |
| Central memory (CD45RA−CCR7+) | 22,6 (72 ↓) | 13,0–43,5 (107–420) | n.a. |
| Effector memory (CD45RA−CCR7−) | 19,5 (62 ↓) | 8,5–28,1 (95–261) | n.a. |
| Terminally differentiated (CD45RA+CCR7−) | 7,6 ↑ (24) | 0,7–6,6 (6–61) | n.a. |
| CD3+CD8+ | 9,1 ↓↓ (40 ↓↓↓) | 13,8–37,5 (276–1035) | n.a. |
| Naive (CD45RA+CCR7+) | 58,5 (23,4 ↓↓↓) | 26,7–72,9 (117–454) | n.a. |
| Central memory (CD45RA−CCR7+) | 10,2 (4 ↓) | 1,2–11,6 (8–85) | n.a. |
| Effector memory (CD45RA−CCR7−) | 15,6 (6 ↓↓) | 6,0–53,6 (19–536) | n.a. |
| Terminally differentiated (CD45RA+CCR7−) | 15,5 (6 ↓↓) | 3,9–72,0 (13–699) | n.a. |
| TCR γ/δ | 3,3 (1) | 0,5–21,5 | n.a. |
| B cells (CD19+) | 22,3 (164 ↓) | 5,7–19,7 (173–685) | n.a. |
| RBE (CD38hiCD21dim/loCD27−) | 12,1 ↓ (20) | 15,0–35,3 (20–179) | n.a. |
| Naive (CD38dim/loCD21hiCD27−) | 66,1 (108) | 33,8–79,6 (40–398) | n.a. |
| CD19hiCD21lo | 6,3 (10) | 1,1–10 (5–17) | n.a. |
| Switched memory (IgD−CD27+) | 8,8 (14) | 2,7–20,6 (7–45) | n.a. |
| IgM memory (IgD+CD27+) | 2,5 ↓ (4 ↓↓) | 3,5–24,1 (10–49) | n.a. |
| Terminally differentiated (CD38hiCD27hiCD21lo) | 0,55 (0,5) | 0,16–8,70 (0,4–11) | n.a. |
| Plasmacells (CD38hiCD20−CD138+) | 0,21 (0,5) | 0,04–3,20 (0,1–5,2) | n.a. |
| NK cells (CD3−CD16+CD56+) | 11,0 (81 ↓) | 4,6–27,8 (111–539) | n.a. |
(Comparison with the only published immunological data from a single PS patient is included where data were available)