What is APDS?
APDS is an underdiagnosed primary immunodeficiency (PI) disease
Jump to section:
Diagnosing APDS
Impact of delayed diagnosis
Suspecting APDS
Importance of genetic testing
Immune imbalance in APDS
DIAGNOSING APDS
APDS has been diagnosed as another PI or condition, causing delays in diagnosis
There are more than 450 types of PIs, including APDS, a childhood-onset PI affecting 1-2 million people in the US
Of 39 patients who had an initial clinical diagnosis other than APDS:
Adapted from Jamee M, Moniri S, Zaki Dizaji M, et al. Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review. Clin Rev Allergy Immunol. 2020;59(3):323-333.
If left untreated for too long, APDS can result in permanent organ damage and increased mortality risk. The median age of death was 11 years earlier than the general population (64 years vs 75 years).
A genetic test can provide a definitive diagnosis of APDS
Recognizing the symptoms of APDS and conducting genetic testing are crucial for achieving earlier diagnosis and effective management.
IMPACT OF DELAYED DIAGNOSIS
Seemingly common symptoms may signal underlying immune deficiency and dysregulation
Missing these symptoms may result in delayed diagnosis
Timeline of most common pathologies seen in APDS
Joenja is indicated for adults and pediatric patients 12 years of age and older.
Delayed diagnosis of APDS in childhood may worsen outcomes [and diminish health-related quality of life]
- For children with APDS, the impact extends beyond physical health to daily life and emotional well-being, including seeing more than 4 doctors to get diagnosed, frequent school absences, academic accommodations, and impacted ability to participate in social activities
- Caregivers also reported burdens, such as treatment management, missed work, and worry
It’s important to test families of individuals since APDS is inherited
- Because APDS is an inherited condition, family members of individuals with APDS should consider genetic testing, including parents, siblings, grandparents, aunts, uncles, and cousins. There is a 50% chance of APDS being passed down from parent to child
- Consider testing for APDS in selected patients with COVID and any of these clinical features:
- Previously treated with mTOR inhibition or other immunosuppressants
- Elevated IgM levels
- Herpes virus infections
- Bronchiectasis
- Non-Hodgkin lymphoma
SUSPECTING APDS
Recognize the atypical immune symptoms that may indicate APDS
Even mild symptoms may indicate a PI or APDS; only genetic testing can help ensure an accurate diagnosis
Children with APDS may present with symptoms differently.
IMPORTANCE OF GENETIC TESTING
If you suspect your patient may have a PI, comprehensive genetic testing that includes APDS is essential for an accurate and timely diagnosis
Sponsored genetic testing option and genetic counseling are available for eligible patients regardless of insurance coverage or financial need
Order a genetic test
IMMUNE IMBALANCE IN APDS
Hyperactive PI3Kδ activity drives diverse manifestations of APDS and immune dysregulation
- Dysregulated B and T cells may result in severe lymphoproliferation, recurrent infections, autoimmune disorders, and malignancies
- Lymphoproliferation can be a manifestation of immune dysregulation and is the most common malignancy in patients with APDS
If genetic testing was done before 2022, consider re-testing. Newer genetic panels now include APDS, improving diagnostic accuracy for patients and families.
ALPS, autoimmune lymphoproliferative syndrome; APDS, activated PI3Kδ syndrome; CID, combined immunodeficiency; CMV, cytomegalovirus; CVID, common variable immunodeficiency; EBV, Epstein-Barr virus; IgA, immunoglobulin A; IgG, immunoglobulin G; IgM, immunoglobulin M; mTOR, mammalian target of rapamycin; XLA, X-linked agammaglobulinemia.
How Joenja Works
→
Access & Resources
→
