Behind The Mystery

Behind the Mystery of APDS: A Rare Primary Immunodeficiency

APDS is caused by a genetic mutation in the PIK3CD or PIK3R1 gene that leads to high activity levels on the P13K delta protein, which leads to a weakened.

APDS is a genetic immunologic condition that can have a severe impact on a patient's life. It was first described in literature in 2013, and before then, nothing was known about it or that it even existed. Patients with APDS present with a wide variety of illnesses, and even family members can have different manifestations of the condition. Symptoms include susceptibility to certain infections, enlarged lymph nodes, liver and spleen, certain lymphomas, GI conditions, and developmental delay. If you suspect you have APDS, a genetic test can confirm your diagnosis. As a child, Tyler was constantly in and out of the hospitals with symptoms doctor's couldn't figure out. When he was finally diagnosed with APDS at 13 years old, to his and his family's surprise, so was his sister. Watch Tyler's inspiring journey and how his sister, Kaitlyn dealt with the shock about her own APDS diagnosis.

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