Why Choose CHOP for Diagnosis and Treatment of a Rare Immune Disorder?

If your child is experiencing unexplained symptoms that affect multiple organs and doctors can't identify your child's illness, CHOP's Immune Dysregulation Program may be able to help. Our program is one of a select few in the United States that provides multidisciplinary experts, state-of-the-art diagnostic and genetic tests, interpretation of test results and personalized treatments for children with autoimmune and autoinflammatory disorders.

While most physicians will encounter only a few of these rare cases during their career, the team at CHOP diagnoses and treats children with immune dysregulation disorders every week.

The right specialist at the right time

At Children's Hospital of Philadelphia (CHOP), your child will have access to a multidisciplinary team of specialists from immunology, oncology, rheumatology, hematology, neurology and others. Depending on your child's symptoms, some or all of these specialists will examine your child, order diagnostic and genetic tests, interpret the results, diagnose your child’s specific disease, and collaborate to determine a treatment plan.

State-of-the-art testing

The Immune Dysregulation Program offers an extensive array of diagnostic testing and genetic testing. Our Immunology Lab operates 24 hours a day, 7 days a week – producing results quickly so clinicians can accurately diagnose your child and begin treatment as soon as possible. For some children with immune dysregulation disorders, even a few days can make a dramatic difference in the course of their lives.

Customized treatments

Because immune dysregulation disorders present differently in each child affected, our clinical and research teams work closely together to determine the treatment that will offer your child the best outcomes.

For example, Luca was a teen when he was first diagnosed with hemophagocytic lymphohistiocytosis (HLH) and successfully treated with steroids. When he was in his mid-20s, the disease struck again. This time, he was much sicker and treatment included chemotherapy and a bone marrow transplant.

The family of another patient, Elijah, struggled for years to find answers to their son's mysterious illness. Finally, an immunologist at CHOP diagnosed Elijah with a never-before-seen disorder, CD40LG duplication-associated autoimmune disease, and researchers and clinicians used Elijah's own cells to develop a customized drug treatment.

Our team continues to research the cause of immune dysregulation disorders and potential treatments. Our physicians are all researchers as well. The dual role means that any new discovery in the field of immune dysregulation will translate quickly to more treatment options for children.