Celebrating World PI Week

Today, as more people recognize the important role the immune system plays in our bodies and long-term health, we want to celebrate our history of breakthroughs, raise awareness of primary immunodeficiencies, and commend all our patients and families who've helped us learn more about these disorders, to develop new tests and to create more treatments to save children's lives.

Join Children's Hospital of Philadelphia (CHOP) in celebrating the 10th Anniversary of World PI Week April 22-29, 2020. This event recognizes 10 years of collaboration, treatment and awareness about primary immunodeficiencies (PI) across the globe.

What are primary immunodeficiencies?

There are more than 400 medical conditions linked to immune deficiencies, such as chromosome 22q11.2 deletion syndrome, severe combined immunodeficiencies and Hyper IgE syndrome. Each are associated with an inherited susceptibility to infection or an altered response to infection. Common symptoms of these conditions include: recurrent or severe infections, inflammation, fatigue and swelling.

Are PI conditions rare?

Some of the individual primary Immunodeficiency conditions are exceedingly rare – some only affecting one in a million children. Other PI conditions are more common. Overall, we believe nearly one in every 5,000 children is affected by some type of primary immunodeficiency.

PI care at CHOP

CHOP has a long history of caring for children living with inherited primary immunodeficiency conditions. About 40 years ago, our Immunology Program was one of the first in the world to offer a dedicated clinic specifically to diagnose, treat and provide long-term care for individuals with PI.

As new primary immunodeficiencies have been discovered at CHOP and other facilities, our team remains dedicated to providing the best diagnostic care and treatment for children with more than 150 different types of primary immunodeficiencies. In each case, our team works to find the root cause of the disorder and develop a personalized treatment to address each child's unique symptoms and pathology.

Two recent patients we've helped are:

• Elijah Elijah, who was diagnosed with CD40LG duplication-associated autoimmune disease, a new, never-before-seen gene mutation, and
• Audrey, who was diagnosed with severe combined immunodeficiency and treated with a bone marrow transplant

Join us as we celebrate World PI Week and recognize:

• The lives of our patients and caregivers
• Audrey Positive research outcomes and the ongoing search for new diagnostic tests, treatments and cures
• A growing understanding of PI and the need for specialized treatment
• Worldwide efforts taken by patients, families, healthcare organizations, policymakers and others to improve outcomes for people living with PI
• New ways to increase awareness of PI treatment and care worldwide, with the goal of improving the quality of life for all patients

Kathleen E. Sullivan, MD, PhD, is Chief of the Division of Allergy and Immunology at Children's Hospital of Philadelphia. She is a world-leading physician and researcher with special interest in primary immunodeficiency disorders. She holds the Frank R. Wallace Endowed Chair in Infectious Diseases at CHOP.