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ALL ABOUT APDS


ACTIVATED PI3K DELTA SYNDROME

This website is intended for a Healthcare Professional audience

 * What is APDS?
 * APDS Features
 * Diagnosing APDS
 * Managing APDS
 * APDS Resources & Links
 * Patients, Families & Caregivers





Activated PI3Kδ syndrome (APDS; sometimes referred-to as p110δ-activating
mutation causing senescent T cells, lymphadenopathy, and immunodeficiency or
PASLI ) is a recently described form of inborn error of immunity (IEI) that is
characterised by a hyperactive PI3Kδ due to heterozygous mutations in PIK3CD or
PIK3R1 genes.1 APDS presents with a variety of clinical manifestations such as
recurrent sinopulmonary infections, non-neoplastic lymphoproliferation, and
herpesvirus infections.2,3 Other significant complications related to immune
dysregulation include lymphoproliferation, cytopenia, arthritis, inflammatory
bowel disease, and lymphoma.2,3 Patients can wait a significant time without a
diagnosis or are often incompletely diagnosed, as PID, CVID or CID patients.1
Untreated APDS may be associated with significantly increased morbidity and
mortality,2-4 affects quality of life and may be life-threatening in some
patients.

Genetic testing is the only way to confirm a diagnosis of APDS, and family
testing is recommended to ensure early/accurate diagnosis and targeted
treatment.

What is APDS?

The phosphatidylinositol 3-kinases are a family of lipid kinases that are
activated by a variety of cellsurface receptors to regulate a wide range of
downstream targets that affect cellular metabolism,
growth, survival, differentiation, adhesion and migration…

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APDS symptoms

APDS symptoms are caused by hyperactive PI3Kδ signalling due to specific
mutations in either PIK3CD or PIK3R1...

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Diagnosing APDS

Genetic testing is the only way to confirm the diagnosis of APDS. As there is a
50% of chance of APDS being passed from parent to child, family members of
patients with APDS should also be genetically tested…

Read more

Managing APDS?

The management of APDS is mainly focussed on treatment of symptoms...

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APDS resources and links

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Patients, families & caregivers

Read more
References
 1. Lougaris V, et al. Pediatr Allergy Immunol. 2022 Jan;33 Suppl 27:69-72.
 2. Elkaim E, et al. J Allergy Clin Immunol. 2016;138(1):210-218.
 3. Coulter TI, et al. J Allergy Clin Immunol. 2017;139(2):597-606.
 4. Maccari ME, et al. Front Immunol. 2018;9: Article 543.

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APD-INT-2022-0012

Date of preparation: April 2022


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