Table 4.
Other Clinical Features
| PIK3CD n=33 | PIK3R1 n=7 | |
|---|---|---|
| Neurological | ||
| Developmental Delay | 7 (21.2%) | 1 (14.3%) |
| Hearing Loss | 6 (18.2%) | 3 (42.9%) |
| Seizures | 6 (18.2%) | None |
| Dysmorphic features | 3 (9.1%) | 1 (14.3%) |
| Failure to thrive | 2 (6.1%) | 2 (28.5%) |
| Atopic | ||
| Atopic Disease | 24 (72.7%) | 3 (42.9%) |
| Asthma | 21 (63.6%) | 1 (14.3%) |
| Food Allergies | 6 (18.2%) | None |
| Eczema | 6 (18.2%) | None |
| EoE/EGID | 4 (12.1%) | None |
| Pulmonary | ||
| Bronchiectasis | 17 (51.5%) | 1 (14.3%) |
| Interstitial lung disease/restrictive lung disease | 3 (9.1%) | 1 (14.3%) |
| Pneumothorax | 1 (3.0%) | 1 (14.3%) |
| Gastrointestinal | ||
| Enteropathy/Chronic diarrhea | 5 (15.2%) | 1 (14.3%) |
| Nodular Regenerative hyperplasia of the liver | 4 (12.1%) | None |
| Inflammatory Bowel Disease | 3 (9.1%) | None |
| Pancreatic Insufficiency | 2 (6.1%) | None |
| Endocrine | ||
| Adrenal insufficiency | 4 (12.1%) | None |
| Hypothyroidism | 3 (9.1%) | None |
| Cardiac | ||
| Cardiomyopathy | 1 (3.0%) | 1 (14.3%) |
| Renal/Genitourinary | ||
| Dysgerminoma | 1 (3.0%) | 1 (14.3%) |
| Other | ||
| Ehlers-Danlos | 1 (3.0%) | 1 (14.3%) |
Neurological disease was commonly reported. 25.0% of patients carried a neurological diagnosis, including 15% with a history of seizures. 20.0% of patients were diagnosed with developmental delay, including one patient with autism. Atopic manifestations have not previously been described in the APDS cohort. 67.5% of patients had evidence of IgE-mediated allergic disease (asthma, eczema, allergic rhinitis, food allergy), which was higher in the PIK3CD cohort compared to the PIK3R1 cohort (72.7% vs 42.9%). 63.6% of patients in the PIK3CD cohort carried a diagnosis of asthma, while only one PIK3R1 patient was diagnosed with asthma.