Table 2.
Immunologic features of patients with Cernunnos/XLF deficiency.
| Parameter | RefValues (children) | P1 | P2 |
|---|---|---|---|
| Lymphocyte (n°/μL) | 2500–6000 | 809 | 879 |
| T CELLS | |||
| CD3+ n°/μL (%) | 1400–4300 (52–88) | 60 (7) | 661 (75) |
| CD3+TCRab (%) | 85–99 | 5 | 54 |
| CD3+TCRγδ (%) | 2–15 | 1 | 16 |
| CD3+HLA–DR+ (%) | 0–10 | 22 | 7 |
| CD3+TCRαβCD4–CD8- (%) | 0–2.5 | 0.2 | 0.7 |
| CD4+ n°/μL (%) | 1000–2500 (33–55) | 53 (7) | 304 (35) |
| CD4+CD45RA+CCR7+(Naïve) (%) | 32–82 | 4.1 | 45.4 |
| CD4+CD45RA–CCR7+ (CM) (%) | 15–30 | 41.5 | 28.9 |
| CD4+CD45RA–CCR7– (EM) (%) | 8–30 | 53.9 | 23.8 |
| CD4+CD45RA+CCR7– (E) (%) | 0.4–4 | 0.4 | 1.89 |
| CD4+CD45RA+CD31+ (%) | 44–60 | 2 | ND |
| CD8+ n°/μL (%) | 400–1400 (17–34) | 6 (1) | 264 (30) |
| CD8+CD45RA+CCR7+(Naïve) (%) | 30–80 | 15.3 | 72.0 |
| CD8+CD45RA−CCR7+ (CM) (%) | 3–28 | 16.2 | 4.5 |
| CD8+CD45RA–CCR7– (EM) (%) | 17–40 | 59.5 | 16.7 |
| CD8+CD45RA+CCR7– (TEMRA) (%) | 2–15 | 9 | 6.8 |
| TRECS (copies/punch) | > 10 | < 10 | 50 |
| NK CELLS | |||
| CD56+CD3– n°/μL (%) | 100–650 (2–20) | 671 (83) | 191 (21.7) |
| B CELLS | |||
| CD19+ n°/μL (%) | 400–1500 (9–28) | 49 (6) | 22 (2.5) |
| CD19+CD27+ (%) | 7–19 | ND | 32 |
| CD19+IgD+CD27– (%Naive) | 75–89 | ND | 63 |
| CD19+IgD+CD27+ (%MZ) | 2.6–7.1 | ND | 14.9 |
| CD19+IgD–CD27+ (%SW) | 4.5–20 | ND | 17.10 |
| CD19+CD38hiIgM+ (%Transitional) | 3–10 | ND | 13 |
| Plasmablasts | 0.5–5 | ND | 4.6 |
| KRECS (copies/punch) | >10 | < 10 | 100 |
| SERUM IMMUNOGLOBULINS (mg/dl) | |||
| IgG (mg/dL) | 600–1230 | 446 | 779 |
| IgA (mg/dL) | 30–200 | 18 | <6.67 |
| IgM (mg/dL) | 50–200 | 40 | 109 |
| SPECIFIC ANTIBODIES | |||
| IgG vs. Pneumococcus (mg/dL) | >5.4 | ND | 2.9 |
| IgG2 vs. Pneumococcus (mg/dL) | >2.4 | ND | 0.36 |
| IgG vs. Tetanus toxoid (IU/mL) | >0.1 | ND | 9.10 |
ND, not determined.