Immune Dysregulation Program

In children with immune dysregulation disorders, the immune system causes multi-system disease with diverse features. Hyperinflammation, autoimmunity and infections can be manifestations of the child's immune disorder. The Immune Dysregulation Program at Children’s Hospital of Philadelphia (CHOP) provides a single place where families can turn for advanced diagnostics of suspected immune disorders and personalized treatments targeting the unique cause of their child’s symptoms.

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 

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’s 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 consider like chronic Lyme disease or Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAs) to be conditions of immune dysregulation. However, if your child has been given one of these diagnoses and 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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