Living with Activated PI3K-delta syndrome
An immune condition that causes repeated infections, swollen lymph nodes, and sometimes autoimmune problems.
Understanding Activated PI3K-delta syndrome
People often have low numbers of white blood cells, especially B and T cells. Severity varies widely, from many severe infections to mild or no symptoms. Repeated infections in the lungs, sinuses, and ears often begin in childhood. Over time, lung infections can lead to bronchiectasis, damage to the airways. White blood cells can clump, causing swollen lymph nodes or an enlarged spleen. APDS raises the risk of lymphoma, and some people develop autoimmunity. GARD lists onset as a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated respiratory infections
- Chronic sinusitis
- Repeated ear infections
- Bronchiectasis (damaged airways)
- Swollen lymph nodes
- Enlarged spleen or liver
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Jeffrey Modell Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, so one changed copy of the gene is enough. There are two types with different genetic causes.
Also known as: apds; senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Patient organizations
- Jeffrey Modell FoundationActivated PI3K-delta syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Activated PI3K-delta syndrome.
Explore research for Activated PI3K-delta syndrome
Explore actively recruiting Activated PI3K-delta syndrome studies with HealthSpark.
Find actively recruiting studies for Activated PI3K-delta syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Activated PI3K-delta syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Activated PI3K-delta syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Activated PI3K-delta syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.