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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
ICD-10
D81.82
Inheritance
Autosomal dominant
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10 Warning Signs of APDS
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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.†
*PASLI, p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.
5 Facts you should know
FACT
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
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
Immunologists may mistake APDS for combined immunodeficiency (CID) or common variable immune deficiency (CVID) or hyper IgM syndrome (HIGM).
FACT
Genetic testing is the only way to definitively diagnose APDS and other primary immunodeficiencies.
FACT
Treatments include immunodeficiency therapies such as immunoglobulin replacement, antibiotic prophylaxis, and hematopoietic stem cell transplant, as well as Joenja (leniolisib) tablets, the first treatment specifically approved for APDS.
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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
Current treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.
Antibiotic prophylaxis
Use of antimicrobial prophylaxis is reported in 61-79% of patients, with antibiotics being the most common treatments.
Hematopoietic stem cell transplant (HSCT)
Hematopoietic stem cell transplant (HSCT) has been used to treat a small proportion (9-17%) of patients with APDS1; while HSCT has the potential to resolve the clinical symptoms of APDS, it is associated with a relatively high risk of post-transplant morbidity and mortality.
Immunoglobulin replacement (IRT)
IRT can be used to address sinopulmonary infections or autoimmune cytopenias and its use has been reported in 63-89% of patients with APDS, starting at a reported median age of 5 years of age, with nearly half of patients receiving treatment by age 10 years.
Joenja (leniolisib)
Leniolisib is the first approved treatment specifically for activated phosphoinositide 3-kinase delta syndrome in adult and pediatric patients 12 years of age and older.