Immunology Service

The Immunology Service at CHOP provides sensitive, patient-centered care to children and young adults with immune deficiencies. Our team team works closely with your whole family to provide education about immune deficiencies, as well as comprehensive immunology therapies.

We also help connect you with other families facing similar medical challenges, so you can learn from others who understand your experiences.

Diagnostic services

Primary immune deficiency disease can present in many ways including recurrent infections, unusual infections and autoimmune diseases. Our expert staff is world renowned in the diagnosis of these diseases. Our Clinical Immunology Laboratory provides advanced diagnostic tools, which are critical to finding an accurate diagnosis for your child and beginning a treatment plan that will improve her quality of life.

Particular areas of clinical emphasis include:

  • Antibody deficiency disorders
  • CHARGE syndrome
  • Chromosome 22q11.2 deletion
  • Chronic granulomatous disease
  • Common variable immune deficiency
  • Cornelia de Lange syndrome
  • Hyper IgE syndrome
  • Innate immunity disorders
  • NEMO syndrome
  • NK cell disorders
  • Severe combined immune deficiency

Comprehensive immunology therapy

Each of the nearly 150 primary immune deficiency diseases has a specific therapy. We offer the most up-to-date therapies for our patients.

Many patients can be treated with probiotics, medications and other interventions to improve their quality of life. Hospital admissions are infrequent and the emphasis is on a normal life style. We work with our Day Medicine Unit for infusion therapy and use home care to maximize time spent at home.

Our Transition Clinic supports young adults as they become more independent and their medical needs change. We emphasize management of immune deficiencies as a way of life rather than an illness that restricts opportunities.

Research

The Immunology Service participates in longitudinal registries of patients with immune deficiencies that aim to define optimal treatments of these diseases. These studies include USIDNET, CIBMTR and PIDTC. Ongoing research efforts are focused on:

  • NK cell disorders
  • NEMO
  • Chromosome 22q11.2 deletion syndrome
  • Common variable immune deficiency
  • Cornelia de Lange syndrome