In a one-day visit to the Immune Dysregulation Clinic, your child with a suspected immune disorder will undergo diagnostic testing, examination and consultation with a selected team of pediatric specialists. The goal is to arrive at a diagnosis and determine a treatment plan tailored to your child. Before you arrive, it's important to understand what an immune dysregulation disorder is, and how we approach the diagnostic process.

What are immune dysregulation disorders?

Immune dysregulation disorders include a broad range of conditions that affect the body’s immune system, causing it to underreact or react ineffectively to infections, or to mistakenly attack healthy cells and tissues as if they were infections.

The terms used to describe these problem immune responses are:

• Immunodeficiency —the body’s immune system is weakened and either underreacts to infections or reacts ineffectively
• Autoimmune responses —specialized infection-fighting white blood cells, including B cells and T cells (the body’s adaptive immune system), incorrectly recognize the body’s own cells and tissues as infective agents, attacking and damaging them
• Autoinflammatory responses —the white blood cells that respond first to infections (neutrophils, macrophages and natural killer cells — the body’s innate immune system) overrespond to indications of infection by secreting excessive levels of inflammatory molecules without triggering an effective immune response to eliminate the infection

An immune dysregulation disorder can involve one, two or all three of these problem immune responses.

Why are immune dysregulation disorders difficult to diagnose?

Immune dysregulation disorders can present with a wide range of symptoms, often affecting several body systems. Many of these disorders are rare, and infrequently seen by healthcare providers — even those who specialize in immunology. Even the more common immune disorders can present with unusual symptoms, making them difficult to identify.

The causes of these disorders are complex and varied, too. Many are caused by genetic mutations, which can only be detected with genetic testing. Others are triggered by environmental factors, such as infections, diet or exposure to toxic chemicals.

All of this can make these disorders difficult to diagnose, leaving many patients who are suspected of having an immune disorder without a firm diagnosis or appropriate treatment plan.

Evaluating children with undiagnosed immune disorders

The Immune Dysregulation Program at Children’s Hospital of Philadelphia (CHOP) brings together a skilled team of specialists in immunology, rheumatology, hematology, oncology, gastroenterology, pulmonology, infectious disease, genetics and others who have experience in diagnosing and treating these rare disorders.

When a family or physician contacts our program about a child with a suspected immune disorder, as first steps, we:

• Gather all relevant information from the doctors the child has already seen, including test results, diagnostic imaging and biopsies
• Interview the family by phone to obtain a detailed history of the child’s health problems
• Present all of this diagnostic information to an expert team to decide how we might be able to help and what specialists will need to be involved
• Schedule a one-day visit in our Immune Dysregulation Clinic for additional testing, examination and consultation with the selected team of pediatric specialists

Most patients see two to five providers for their clinic appointment. Our Nurse Practitioner and team will have reviewed your child’s medical history and chosen the most appropriate providers based on that.

The day of the clinic visit is carefully scheduled to ensure that all relevant specialists are able to evaluate your child, collect samples for testing, and consult with caregivers.

Providers will see your child one at a time, and each provider may spend 30-60 minutes with you and your child. The total appointment time can run upwards of three hours, and you child may need to complete a few lab tests as well. Generally, there is no need to fast for the appointment. If doctors do require lab tests with fasting from your child, they will let you know before the appointment.

After testing and individual examinations are complete, the team of specialists will meet to review your child’s case and decide together on a plan for establishing a diagnosis and beginning treatment.

At the end of the appointment, a team member will review the next steps in diagnosis and/or treatment and answer any questions you or your child may have. We may not have a final plan on the day of your child’s visit if additional lab tests are needed before we can finalize a plan for your child.

After your child’s appointment, you will receive a summary letter with details of your child’s treatment plan. This letter will also be shared with your child’s referring physician and any other specialists who will be part of your child’s ongoing care after leaving CHOP.

Please note: We will not be taking over your child’s care long-term; instead, we will provide recommendations to your child’s primary managing team. We may partner with your primary managing team for ongoing care, and/or provide select follow-up appointment when indicated.

Diagnosing a child’s immune disorder

The specialists in the Immune Dysregulation Program are often, but not always, able to provide a diagnosis to children who come to a clinic visit without one. The diagnostic process can take some time, especially if genetic testing is required. Our team is developing streamlined methods to speed genetic diagnosis by searching first for the mutations known to be associated with identified immune dysregulation disorders.

Until a diagnosis is made, our specialists use the information that is known — the patient’s history and symptoms, the data from testing, and knowledge of what treatments are effective for similar conditions — to make recommendations for a treatment plan. Changes to the plan are made over time based on the child’s response to treatment, the evolving course of the disorder and new information about the underlying cause of the condition.

The Immune Dysregulation Program also serves as an entry point for relevant research studies and clinical trials, some of which are being conducted at CHOP. These can be a way for patients with rare and difficult-to-treat immune dysregulation disorders to access new diagnostic tools and treatments as they are being tested.

We understand patients and families who come to us with undiagnosed immune disorders can be frustrated and anxious about facing an unnamed health problem. Our goal is to provide hope and a path to diagnosis, effective care, and an improved quality of life.

Why choose CHOP?

Diagnosing and treating immune dysregulation disorders requires the coordination of multiple specialists. The Immune Dysregulation Program at Children’s Hospital of Philadelphia (CHOP) brings together a skilled team of specialists who have experience with these rare diseases. We coordinate treatment with other specialists as needed, and with the child’s local medical team.