Immune Dysregulation Program

For most children, the immune system helps fight infections. But in children with immune dysregulation disorders, the immune system malfunctions, instead causing inflammation and organ damage, while also making children vulnerable to infections. Immune dysregulation disorders are rare, complex, and difficult to diagnose. However, if children are diagnosed quickly and accurately, treatment – and, in some cases, a cure – is possible.

At Children's Hospital of Philadelphia, the Immune Dysregulation Program offers patients multidisciplinary expertise, cutting-edge diagnostic and genetic testing, and collaborative and innovative research into the genes and causes of immune dysregulation syndromes. If your child is suffering and specialists haven't been able to tell you why, we can find answers and customize treatments to give your child the best possible quality of life.

Suspected Immune Disorders: Evaluation, Diagnosis and Treatment

Why Choose Us?

If your child is experiencing unexplained symptoms that affect multiple organs and doctors can't tell you why, CHOP's Immune Dysregulation Program can find answers. Our program offers coordinated care from experts in every specialty, state-of-the-art diagnostic and genetic tests, and personalized treatments.

Who We're Here For

The Immune Dysregulation Program is where families should turn when it's suspected that their child suffers from an immune dysregulation disorder, they want a second or third opinion, or they are having difficulty finding an effective treatment. We specialize in:

  • 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 counts 

Some patients may not yet have received a diagnosis, but are experiencing some combination of the following symptoms that might indicate an immune dysregulation process which has yet to be explained:

  • Recurrent fevers and rash syndromes
  • Recurrent fevers and joint swelling
  • Recurrent fevers with signs of unidentified infection
  • Unexplained hyperinflammation

In addition to examining patients with unknown immune dysregulation illnesses, we also see patients with a handful of known conditions that have additional complicating factors or symptoms that have not been alleviated by traditional treatments.

Some of the most common diseases we evaluate include:

  • Hemophagocytic lymphohistiocytosis (HLH)
  • Autoimmune lymphoproliferative syndrome (ALPS), a rare inherited disorder in which the body can’t regulate the number of immune system cells
  • Unidentifiable periodic fever syndromes
  • Castleman Disease, a rare disease that causes an overgrowth of cells in the lymph nodes
  • NLRC4 mutation (autoinflammation with infantile enterocolitis), a syndrome that causes spontaneous inflammation in the absence of infections
  • CTLA4 deficiency, a disorder that severely impairs the normal regulation of the immune system causing problems in various body systems
  • LRBA deficiency, a rare genetic disorder characterized by recurrent respiratory infections and a combination of autoimmune disorders
  • XIAP deficiency, an X-linked genetic disorder that causes recurrent fevers, rash, low blood count and often an enlarged spleen
  • Autoimmune or immunodeficiency syndromes such as Evans syndrome or Common Variable Immune Deficiency (CVID), where symptoms are occurring that don’t normally fit with those diagnoses.

Our team collaborates with other specialties as needed. For example, patients with uncomplicated ALPS and Evans syndrome would be seen by Hematology, while a patient with periodic fever syndrome would be seen by Rheumatology. When the primary treating specialty encounters challenges managing the disease or the diagnosis is in question, these children may be referred to our program.

We do not treat chronic or post-infections behavioral or neuro-developmental symptoms. However, if you are seeking another explanation for the symptoms, we can evaluate for objective evidence of immune dysfunction contributing to your child’s symptoms. Unless we find evidence, we will not recommend treatments aimed at the immune system.

Our Team

There's no other pediatric hospital that combines the expertise of so many subspecialists to aid in the evaluation and treatment of children with immune dysregulation disorders. While not all of these providers see patients in our outpatient clinic, they all contribute regularly to multi-disciplinary discussions to help with inpatient and outpatient care management.

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