The Research Immunology Program at Children’s Hospital of Philadelphia (CHOP) participates in several longitudinal studies and registries of patients with immune deficiencies. Our goal with research is to better understand the multitude of primary immunodeficiency disorders and their causes and symptoms and to determine optimal treatments that can limit the effects of these disorders and, ultimately, enhance the quality of our patients’ lives.

CHOP is working with several large, multi-site centers, networks and consortiums to improve outcomes for patients with rare and life-threatening inherited disorders of the immune system. We collaborate with the:

• United States Immunodeficiency Network (USIDNET), a research consortium started in 1992 to develop a registry of patients with chronic granulomatous disease (CGD). Later, it expanded to include eight different immunodeficiency diseases, including common variable immune deficiency (CVID), severe combined immune deficiency (SCID), Wiskott-Aldrich Syndrome (WAS) and others.
• Center for International Blood and Marrow Transplant Research (CIBMTR), a collaborative resource of experts and data supporting research in cellular therapies to improve outcomes for patients after blood or marrow transplants.
• Primary Immune Deficiency Treatment Consortium (PIDTC), a group of 47 centers across the U.S. whose immediate focus is concentrated on four severe immune disorders that can be cured with hematopoietic stem cell transplant, enzyme replacement, and/or gene therapy.

CHOP is also a Jeffrey Model Center for Primary Immunodeficiencies, one of 50 clinics in the world dedicated to the diagnosis and treatment of children and adults born with inherited defects in their immune systems.

Current research at CHOP is focused on:

• Autoimmunity caused by genetic conditions
• Chromosome 22q11.2 deletion and duplication syndromes
• Common variable immune deficiency
• Cornelia de Lange syndrome
• Lack of a thymus (whether born without the organ or it was surgically removed as a treatment for another condition)
• Severe allergy as a feature of immunodeficiency
• The genetic basis of inborn errors of immunity
• Severe combined immunodeficiency (SCID)
• Chronic granulomatous disease (CGD)
• Immune regulatory disorders
• Outcomes after hematopoietic stem cell transplant (HSCT) for primary immunodeficiencies (PID)
• Immune system abnormalities associated with post-Fontan physiology (see our FORWARD Program)