Loading Results
We have updated our Online Services Terms of Use and Privacy Policy. See our Cookies Notice for information concerning our use of cookies and similar technologies. By using this website or clicking “I ACCEPT”, you consent to our Online Services Terms of Use.
Pediatric Allergy & Immunology

Inborn Errors of Immunity Clinic

Inborn errors of immunity (IEI) are disorders in which the immune system does not function properly as a result of a genetic defect. University Hospitals Rainbow Babies & Children’s Inborn Errors of Immunity Clinic is a hub for innovative research and world-class patient care dedicated to improving the lives of people born with these conditions.


Schedule an Appointment Today

At the Inborn Errors of Immunity Clinic, we see patients of all ages. To schedule a visit for you or your child, contact our clinic nurse coordinator at 216-844-3249.

What Are Inborn Errors of Immunity?

IEI represent a group of more than 450 inherited disorders, most caused by single-gene mutations, that impair the immune system’s ability to fight infectious disease, autoinflammatory disease and allergies.

The several types of IEIs include:

  • Primary immunodeficiency diseases (PIDs): In contrast to secondary immunodeficiency, which is a term that describes weakened immune system function caused by other conditions, PIDs are diseases of the immune system itself. These disorders typically cause recurring, hard-to-cure infections. Many PIDDS are also forms of immune dysregulation, a term that refers to disorders in which the immune system is deficient (does not protect the body from infection as well as it should), while also incorrectly attacking the person’s own tissues and organs (autoimmunity) Examples of some of common PIDDs include:
  • Immunodeficiency associated with syndromic features: Several syndromic diseases have known associations with immunodeficiency and/or immune dysregulation, warranting an immune work-up. These include:
    • 22q11 Deletion Syndrome (DiGeorge syndrome)
    • CHARGE syndrome
    • Wiskott-Aldrich syndrome
    • Down syndrome (Trisomy 21)
    • Cornelia de Lange syndrome
  • Immune dysregulation: This group includes diseases usually treated by multiple specialists, including Hematology-Oncology and Rheumatology specialists. The group includes:
    • Auto-inflammatory disorders, including recurrent fevers and systemic inflammation with rashes
    • Hemophagocytic lymphohistiocytosis (HLH), which is a condition where the body can produce an exaggerated inflammatory response to multiple triggers; HLH is sometimes associated with specific gene defects
  • Very early onset of inflammatory bowel disease: When inflammatory bowel disease (Crohn’s disease, ulcerative colitis) is diagnosed earlier than 6 years of age, there is an increased chance that the disease may be associated with defects of some of the genes involved with the immune system. Identifying those defects, when possible, can have important implications in the specific treatment pursued to counteract the bowel inflammation.

About Our Clinic

Despite efforts of immunology groups worldwide, IEI is a class of diseases that remains underdiagnosed. A lack of awareness of IEI in the general clinical community has hindered the availability and the advancement of care for people who have these conditions. Up to 90 percent of patients with IEI go undiagnosed and untreated for long periods of time. Delays in diagnosis and care in people with IEI often lead to reduced quality of life and increases in morbidity and mortality.

To help address this healthcare crisis at our own local level, the pediatric allergists and immunologists at UH Rainbow Babies & Children’s established the Inborn Errors of Immunity Clinic to serve patients in the Northeast Ohio/Great Lakes area. Backed by the resources and support of a full-service children’s hospital and academic medical center, our clinic is uniquely positioned to provide outstanding interdisciplinary IEI care that includes support from experts in diverse fields such as pediatric gastroenterology, hematology/oncology, rheumatology, dermatology, infectious diseases and transplant services.

Furthermore, we are proud to have UH Rainbow Babies & Children’s as a Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies, which provides advanced diagnostics and treatment for young patients with primary immunodeficiency (PI) disorders. The Jeffrey Modell Diagnostic Center operates as part of an international network of 150 similar diagnostic and research centers funded by the Jeffrey Modell Foundation and dedicated to advancing the diagnosis, treatment and, ultimately, cure for PI disorders through research, advocacy, public awareness, physician education, patient support and newborn screening.


Goals of the Inborn Errors of Immunity Clinic

  • Provide specialized and targeted diagnosis and immunology care to children with IEI
  • Promote awareness that UH Rainbow Babies and Children’s Hospitals has providers that specialize in IEI
  • Increase early referrals of at-risk patient populations for clinical immunology evaluation
  • Provide continuity of care for patients identified as potentially having an IEI during inpatient consultations or as a result of neonatal screening, including patients discharged with pending lab test results and patients that require further evaluation
  • Provide access to specific genetic evaluation in the context of IEI diagnosis and treatment

Clinic Location and Times

The Inborn Errors of Immunity Clinic is held weekly on the first Wednesday morning of the month at UH Rainbow Babies & Children’s Frank Zagara Pediatric Specialty Clinic from 8 a.m. to 12 p.m.

Inborn Errors of Immunity Clinic
Frank Zagara Pediatric Specialty Clinic
11100 Euclid Ave., Suite 170
Cleveland, OH 44106

Get Directions

Clinic Staff

Clinic RN Coordinator: Margaret Gibson, RN
Clinic Physician Provider: Joao Pedro Matias Lopes, MD
Clinic RN Provider: one exclusive RN provider is available every clinic day

Schedule an Appointment Today

To schedule a visit for you or your child, contact our clinic nurse coordinator at 216-844-3249.