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Activated PI3K Delta Syndrome (APDS)

Activated PI3K Delta Syndrome (APDS) is a rare, genetic primary immunodeficiency

Prevalence

<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

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ICD-10

D81.8

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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Rare View

Activated PI3K delta syndrome, known as APDS (previously known as PASLI* Disease) is a rare primary immunodeficiency, first discovered in 2013. APDS is caused by genetic variants in either one of two genes known as PIK3CD or PIK3R1, which encode proteins that are vital to the normal development and function of immune cells. Signs and symptoms of APDS start in childhood, and patients are vulnerable to repeat infections and immune dysregulation such as lymphadenopathy, splenomegaly, autoimmune cytopenias, and even lymphoma.

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5 Facts you should know

FACT

1

APDS a Primary Immunodeficiency, was only characterized in 2013 though shares many features of other immune disorders, which means APDS patients may have been previously misdiagnosed with other conditions.

FACT

2

Signs and symptoms of APDS start in childhood, and patients are vulnerable to repeat infections and immune dysregulation such as sinusitis, severe respiratory tract infections, recurrent herpes or EBV/CMV, lymphadenopathy and autoimmune cytopenias.

FACT

3

Immunologists may mistake APDS for combined immunodeficiency (CID) or common variable immune deficiency (CVID) or hyper IgM syndrome (HIGM).

FACT

4

Genetic testing is the only way to definitively diagnose APDS and other primary immunodeficiencies.

FACT

5

Management of APDS is symptomatic – antibiotics, antivirals or IVIG may be used to treat or prevent recurrent infections immunodeficiencies.

Activated PI3K delta syndrome (APDS)

Activated PI3K delta syndrome (APDS) is also known as

PASLI disease, p110 delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency

What’s your rare IQ?

Activated PI3K Delta Syndrome (APDS) is one of more than 400 defined Primary Immunodeficiencies (PIs). Which of the following is not a Primary Immunodeficiency?

Common Signs & Symptoms

Bronchiectasis

Permanent enlargement of the airways of the lungs

Decreased circulating IgG2 level

Decreased proportion of class-switched memory B cells

Decreased specific pneumococcal antibody level

Increased circulating IgM level

Increased proportion of transitional B cells

Lymphadenopathy

Swollen lymph nodes

Recurrent ear infections

Frequent ear infections

† All About APDS https://allaboutapds.com