About the Immune Dysregulation Program

For most children, the immune system helps fight illness. For children with immune dysregulation disorders, however, the immune system malfunctions, affecting multiple systems of the body. An overactive immune system attacks the body, causing dangerous inflammation and organ damage. An underactive immune system leaves the child vulnerable to infection. Immune dysregulation disorders are rare, complex, and difficult to diagnose. If children with these disorders are diagnosed quickly and accurately, treatment and, in some cases, a cure is possible.

At Children's Hospital of Philadelphia (CHOP), the Immune Dysregulation Program offers patients and families its multidisciplinary expertise, cutting-edge diagnostic and genetic testing, and comprehensive research into the many gene variants that cause immune dysregulation syndromes. If your child is suffering and specialists haven't been able to tell you why, we can find answers. Once we know what's causing your child's symptoms, our experts can customize treatments to help your child achieve the best possible quality of life. 

Diagnosing immune disorders

Immune dysregulation disorders can be extremely difficult to diagnose because many of the symptoms mimic other diseases and can affect multiple organs at the same time. To provide the best outcomes for children, CHOP brought together a team of immunologists, oncologists, rheumatologists, hematologists, neurologists, pathologists, clinical pharmacologists and basic scientists to form the Immune Dysregulation Program. These experts work together to accurately diagnose patients, coordinate care and personalize treatments.

Our program helps other pediatric specialists diagnose and treat children with all types of immune dysregulation. Because acting quickly is important to getting the best outcome for children with these disorders, our team guides physicians through the complex process of ordering the right tests, interpreting the results, diagnosing the disease, and deciding on a treatment plan.

Immune dysregulation syndromes can be grouped into five primary categories:

  • Undiagnosed conditions where an immune disorder is suspected
  • Immune disorders of hyperinflammation
  • Immunodeficiency disorders associated with autoimmunity
  • Genetic autoimmune/autoinflammatory disorders
  • Autoimmunity-associated abnormal blood cell counts

Offering the most advanced tests available

Children suspected to have an immune dysregulation syndrome will need specialized diagnostic tests in addition to routine blood work. These tests include:

  • A panel of immune function tests
  • Genetic testing

At CHOP, our Immunology Laboratory offers an extensive menu of testing assays to examine both the cellular and humoral immune systems. The lab operates seven days a week, ensuring test results are available to clinicians quickly and can be used to determine optimal care and treatment for patients.

Our Immune Dysregulation team is also developing a gene panel — using the data we have today about which genes have been shown to cause immune dysregulation syndromes — to more quickly identify these rare disorders. As we discover new gene variants, we will add to the testing panel ensuring that future patients will benefit from our experience.

Advanced treatments

Treatment for immune dysregulation syndromes vary as much as the diseases themselves, and may include:

  • Steroids
  • Immunomodulatory medications
  • Chemotherapy
  • Bone marrow transplant

The goal of treatment is to make the immune system operate as it should. For example, a child with an overactive immune system may achieve remission using a combination of steroids and chemotherapy. If that's not successful, the child may need an allogeneic stem cell transplant to replace their defective immune system with a healthy immune system from a different person. For many children with overactive immune systems, stem cell transplant offers the best chance for a cure. 

Leading research

The biggest hurdle in treating immune dysregulation syndromes is identifying alternative therapies for children who don’t respond to treatments or combinations of treatments that are currently available. Our immune dysregulation experts at CHOP are hard at work in the lab:

  • Studying the functions of immune cells in these patients
  • Identifying new genetic causes for these disorders
  • Testing new drugs that might be effective for patients who experience a relapse or whose disorder does not respond to current treatments

In addition, CHOP is hosting an in-house clinical trial and participating in a multi-site pilot study to evaluate the safety and effectiveness of several novel treatment regimens for patients with immune dysregulation disorders.

Our Immune Dysregulation Program was designated a Frontier Program by Children's Hospital of Philadelphia. Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help even more children thrive.

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