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Videos & Downloads

APDS Videos

Mechanism of Disease

What is happening in my body?

The APDS Diagnosis Journey

Dr Eveline Wu talks through the patient journey to an APDS diagnosis.

A Doctor’s Perspective

Dr Hartog talks about the genetics behind APDS and how it is diagnosed.

Primary Immunodeficiency Beyond Infections

Dr Charlotte Cunningham-Rundles, Professor of Immunology at Icahn School of Medicine at Mount Sinai Medical Center in New York, describes the burden of disease that is experienced by patients with primary immunodeficiency.

The Importance of Genetic Testing

Dr Jennifer Leiding specializes in treating patients with primary immunodeficiency diseases and talks here about the importance of genetic testing.

Analyzing a Variant of Uncertain
Significance (VUS)

Dr Jolan Walter is the division chief of Pediatric Allergy and Immunology at Johns Hopkins All Children’s Hospital and a professor at the University of South Florida. In this video she describes how to analyze VUS genetic test results and walks through a sample report analysis.

Heather’s Story

Heather is the mom of an amazing 10- year-old daughter who was diagnosed with the rare primary immunodeficiency, APDS. This is her story.

Understanding the Patient Experience

This video highlights the variety and severity of symptoms that each person with APDS may experience, and the importance of genetic testing.

APDS Downloads

All about APDS
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