Case Report
Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature
Table 1
Immunological work-up.
| | | | Normal values |
| White blood cells | 4,7 × 103/mm3 | | 4,0–10,0 × 103/mm3 |
| Neutrophils | 2,8 × 103/mm3 | | 1,5–8,5 × 103/mm3 |
| Lymphocytes | 1,0 × 103/mm3 | | 2,3–5,6 × 103/mm3 |
| Immunoglobulin G | 2,5 g/L | | 4,0–11,0 g/L |
| Immunoglobulin A | 1,01 g/L | | 0,1–1,6 g/L |
| Immunoglobulin M | 0,75 g/L | | 0,5–1,8 g/L |
| CD3+ |
411/mm3 | | 900–4500/mm3 |
| CD4+ | 279/mm3 | | 500–2400/mm3 |
| CD4RA | 140/mm3 | | |
| CD4RO | 139/mm3 | | |
| CD8 | 124/mm3 | | 300–1600/mm3 |
| CD8RA | 52/mm3 | | |
| CD8RO | 72/mm3 | | |
| CD25+CD127−FoxP3+ | 0 | | |
| CD19 | 84/mm3 | | 200–1300/mm3 |
| CD3−CD16+CD56+ | 5/mm3 | | 100–1000/mm3 |
| Response of T cells to PHA | low | | |
| | Before vaccination | After vaccination | Normal values |
| Anti-pneumococcal AB | <3 IE/mL | <3 IE/mL | >19/mL |
| Anti-tetanos AB | <0.01 IE/mL | 0.1 IE/mL | >0.1 IE/mL |
| Anti-poliovirus AB | Absent | Present | |
| Anti-rubella AB | 300 IE | — | Positive |
| Anti-mumps AB | Negative | — | Positive |
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