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| Disease found: | Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
| Current as of: | October 8, 2024 |
| Disease Overview: | An inherited condition that affects the way the immune system works. [more info] |
| Signs and Symptoms: | Signs and symptoms can begin at any age and may manifest as ear infections, sinus infections, pneumonia bronchiectasis, viral infections, enlarged lymph nodes, enlarged liver, enlarged spleen, intestinal inflammation, skin infections, autoimmunity, growth delay and short stature, neurodevelopmental delay, increased risk of lymphoma and blood cancers. [more info] |
| Diagnosis: | APDS is diagnosed based on the symptoms, clinical examination, a detailed family history and laboratory testing to look for abnormalities in the levels and function of immune cells. [more info] |
| Treatment: | A combination of immunosuppresive medications and long-term immunoglobulin replacement therapy. [more info] |
| Clinical Management: | Often requires daily antibiotics to help prevent infections before they happen. [more info] |
| Referral: | No specialist currently. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | none currently |