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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
Age of Onset
ICD-10
D81.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
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.†
5 Facts you should know
FACT
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.
FACT
Signs and symptoms of APDS start in childhood, and patients are vulnerable to repeat infections and immune dysregulation such as severe respiratory tract infections, sinusitis, swollen lymph nodes, like tonsilitis and nodules in the air ways.
FACT
Recurrent respiratory infections affect virtually all APDS patients.
FACT
Bronchiectasis is a severe and common complication - lung infections affect up to 60% of APDS1 patients.
FACT
Genetic testing is the only way to definitively diagnose APDS and other primary immunodeficiencies.
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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
Recurrent ear infections
† All About APDS https://allaboutapds.com