Table 2.
Infections
| PI3KCD n=33 | PI3KR1 n=7 | Combined n=40 | |
|---|---|---|---|
| RESPIRATORY | |||
| Recurrent Sinusitis | 25 (75.8%) | 2 (28.6%) | 27 (67.5%) |
| Pneumonia | 24 (72.7%) | 4 (57.1%) | 28 (70.0%) |
| Recurrent URI | 20 (60.6%) | 4 (57.1%) | 24 (60.0%) |
| Otitis | 20 (60.6%) | 5 (71.4%) | 25 (62.5%) |
| Dental/oral soft tissue abscesses | 7 (21.2%) | 0 | 7 (17.5%) |
| Thrush | 3 (9.1%) | 1 (14.3%) | 4 (10.0%) |
| Tonsillitis | 1 (3.0%) | 0 | 1 (2.5%) |
| Ocular infections | 1 (3.0%) | 1 (14.3%) | 2 (5.0%) |
| VIRAL | |||
| Herpesvirus Infection (All) | 11 (33.3%) | 4 (57.1%) | 15 (37.5%) |
| EBV | 7 (21.2%) | 1 (14.3%) | 8 (20.0%) |
| HSV | 5 (15.2%) | 2 (28.6%) | 7 (17.5%) |
| CMV | 4 (12.1%) | 1 (14.3%) | 5 (12.5%) |
| VZV | 3 (9.1%) | 2 (28.6%) | 5 (12.5%) |
| Warts | 3 (9.1%) | 2 (28.6%) | 5 (12.5%) |
| Molluscum | 3 (9.1%) | 1 (14.3%) | 4 (10.0%) |
| HPV | None | 1 (14.3%) | 1 (2.5%) |
| GASTROINTESTINAL | |||
| Chronic Diarrhea | 4 (12.1%) | 4 (57.1%) | 8 (20.0%) |
| Splenic Abscess | 1 (3.0%) | 1 (14.3%) | 2 (5.0%) |
| Liver Abscess | 1 (3.0%) | 1 (14.3%) | 2 (5.0%) |
| OTHER | |||
| Meningitis | 4 (12.1%) | 0 | 4 (10.0%) |
| Skin Abscess | 3 (9.1%) | 1 (14.3%) | 4 (10.0%) |
| Endocarditis | 1 (3.0%) | 0 | 1 (2.5%) |
A large range of infections was exhibited, most commonly bacterial respiratory infections and herpesvirus infections. Opportunistic infections were rare, with only one PI3KCD patient who developed Pneumocystis jirovecci pneumonia. 15.0% of patients reported various abscesses