All About Activated PI3K Delta Syndrome (APDS)

Learn More About APDS

APDS (previously known as PASLI* Disease) is a rare primary immunodeficiency that was first characterized in 2013.1–3
It is caused by genetic variants in either one of two identified genes known as PIK3CD or PIK3R1, which encode proteins that are vital to the normal development and function of immune cells.1,3
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The Symptoms Or Sequelae Of APDS Have The Potential To Be Life-Threatening. Proper Diagnosis And Management Are Essential.3,4

APDS is difficult to diagnose as symptoms vary even amongst family members with the same genetic variant.3 Since APDS was only recently fully characterized and shares many features of other immune disorders, patients with APDS may have been previously misdiagnosed with other conditions.5
In addition, APDS currently lacks clinical care guidelines due to its rarity and recent discovery.

Signs & Symptoms

Signs and symptoms of APDS start in childhood, and patients are vulnerable to recurrent sinopulmonary infections and lymphoproliferation that can manifest as lymphadenopathy, splenomegaly or hepatomegaly. Autoimmune cytopenias and lymphoma have also been reported to occur in APDS.6

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Common Misdiagnosis

Patients are often misdiagnosed with other immunodeficiencies or autoimmune disorders and have a protracted course to obtain a correct diagnosis.5

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Genetic Testing

You may want to consider genetic testing that may help diagnose APDS and many other primary immunodeficiencies.7,8

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Family Testing

APDS is inherited in an autosomal dominant pattern. Other family members may be affected, yet present with varying symptoms.6 Genetic testing of family members is recommended.9

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A Definitive Diagnosis May Change The Way You Manage The Disease8

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* PASLI: p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.

References:

1. Singh A, et al. An updated review on activated PI3 kinase delta syndrome (APDS). Genes Dis. 2019;7(1):67–74. 2. Lucas CL, et al. PI3Kδ and primary immunodeficiencies. Nat Rev Immunol. 2016;16(11):702–714. 3. Vanselow S, et al. Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment. Front Immunol. 2023;14:1208567. 4. Hanson J, Bonnen PE. Systematic review of mortality and survival rates for APDS. Clin Exp Med. 2024;24(1):17. 5. Jamee 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. 6. Redenbaugh V, Coulter T. Disorders related to PI3Kδ hyperactivation: Characterizing the clinical and immunological features of activated PI3-kinase delta syndromes. Front Pediatr. 2021;9:702872. 7. Paris K, Wall LA. The treatment of primary immune deficiencies: Lessons learned and future opportunities. Clin Rev Allergy Immunol. 2023;65(1):19–30. 8. Quinn J, et al. Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment. Immunol Res. 2020;68(3):126–134. 9. Immunodeficiency UK. Information sheet on Activated PI3K delta syndrome (APDS). Available at: https://www.immunodeficiencyuk.org/wp-content/uploads/2024/01/APDS-short-information-sheet.pdf. Accessed April 16, 2024.

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