Table 2.
Clinical and immunological findings of 13 persistent PIDs patients vs 10 THI patients at last FU (mean 14 years, median 16 years).
| Persistent PIDs (13 pts) | THI (10 pts) |
p-Value | |
|---|---|---|---|
| CLINICAL MANIFESTATIONS | |||
| Infections | 5/13 (38%) | 0/10 (0%) | 0.04 |
| URTI | 3/5 (60%) | - | 0.02 |
| LRTI | 3/5 (60%) | - | 0.02 |
| GI | 1/5 (20%) | - | ns |
| Allergy | 6/13 (46%) | 5/10 (50%) | ns |
| Asthma | 2/6 (33%) | 0/5 (0%) | ns |
| Rhinitis | 3/6 (50%) | 4/5 (80%) | ns |
| Conjiunctivitis | 1/6 (17%) | 2/5 (40%) | ns |
| Autoimmunity | 2/13 (15%) | 0/10 (0%) | ns |
| Neutropenia | 2/2 (100%) | - | ns |
| Vasculitis | 1/2 (50%) | - | ns |
| IMMUNOLOGICAL ABNORMALITIES | 13/13 (100%) | 0/10 (0%) | 0.0001 |
| Isolated or combined IgG defect | 6/13 (46%) | 0/10 (0%) | 0.02 |
| Isolated or combined IgA defect | 8/13 (61%) | 0/10 (0%) | 0.003 |
| Isolated or combined IgM defect | 7/13 (54%) | 0/10 (0%) | 0.007 |
| IgG subclass defect | 7/13 (54%) | 0/10 (0%) | 0.007 |
| Low anti TT antibody response | 1/9 (11%) | 0/10 (0%) | ns |
| Low anti PCP antibody response | 2/10 (20%) | 0/10 (0%) | ns |
| Low switched memory B cells | 7/13 (54%) | 0/10 (0%) | ns |
| Low IgM memory B cells | 2/13 (15%) | 0/10 (0%) | ns |
| Genetic Characterization | 8/13 (61%) | - | |
| TNFRSF13B mutations | 4/8 (50%) | ||
| TNFRSF13B c.301T>C plus TNFRSF13B c.204dupA | 2/4 (50%) | ||
| Heterozygous TNFRSF13B c.301T>C mutation | 2/4 (50%) |
URTI upper respiratory tract infections; LRTI lower respiratory tract infections; GI gastrointestinal infections; UTI urinary tract infections; TT tetanus toxoid; PCP pneumococcal.