Table 1.
Clinical and immunological features of the study participants
| Patient 1, II.2 | Patient 2, III.1 | |
|---|---|---|
| Sex | Female | Male |
| Current age | 32 | 9 |
| Growth | Normal growth | Growth failure (–4.5 SD) |
| Infection susceptibility | ||
| Respiratory tract infections | Respiratory tract infections | |
| Low-copy EBV viremia (100–2600 copies/ml) | ||
| Immune dysregulation | ||
| Atopic eczema | Psoriasis | |
| Seronegative polyarthritis | Lymphocytic interstitial pneumonitis | |
| Chronic diarrhea | Autoimmune enteropathy | |
| Laboratory features a | ||
| Lymphocytes (1300–3600) | 660 ↓ | 1670 |
| B cells (CD19 + ) (100–500) | 20 ↓ | 320 |
| Switched memory B cells (CD27 + IgD−IgM−) (6.5%–29.2%) | 0 ↓ | 0 ↓ |
| T cells (CD3 + CD4 + ) (300–1400) | 491 | 722 |
| T cells (CD3 + CD8 + ) (200–1200) | 170 ↓ | 300 |
| Treg (FOXP3 + CD25 + ) (2.8%–6.4%) | 5.8 | 5.5 |
| Treg suppressive capacity | Normal | Reduced |
| NK cells (CD3-CD16 + 56 + ) (90–600) | 40 ↓ | 20 ↓ |
| Plasmacytoid dendritic cells (lin-HLA-DR + CD123 + CD11c–) | 0.04 ↓ | 0.04 ↓ |
| Monocytoid dendritic cells (lin-HLA-DR + CD13–CD11c + ) | 0.04 ↓ | 0.04 ↓ |
| Immunoglobulins | ||
| IgG (6.8-15.0 g/l) | 0.9 ↓ | 7.5 (substitution) |
| IgA (0.52-4.02 g/l) | 0 ↓ | < 0.1 ↓ |
| IgM (0.47-2.84 g/l) | 0.07 ↓ | 0.1 ↓ |
| IgE (0-110 IU/l) | < 4 | 5 kU/l |