Comprehensive Genetic Testing for Inborn Errors of Immunity / Primary Immunodeficiency
At Montefiore Medical Center, we have pioneered one of the first combined immunology and genetics clinics in the country. The goal of our specialty clinic is to provide a comprehensive genetic evaluation for patients and their family members with immunodeficiency suspected of having an underlying genetic etiology. This is a rapidly growing field requiring the expertise of the immunologist, geneticist, and genetic counselor. We provide collaborative, extensive evaluation of patients with novel and well-established immunodeficiency diseases and cascade testing for at risk family members. This has enabled us to provide a precision therapeutic approach to affected individuals in addition to preventive care and appropriate genetic counseling to those at risk.
What are inborn errors of immunity?
There are now over 400 inborn errors of immunity leading to primary immunodeficiency which affects 1 in 2000 individuals. Primary immunodeficiency patients will typically present in their early years of life; however, primary immunodeficiency can present at any age. Typical features can manifest with a wide range of symptoms including recurrent severe and/or unusual infections, requiring hospitalization for infections, failure to thrive, persistent thrush, extensive skin fungal infections, severe cutaneous warts, multiple autoimmune diagnosis such as low blood counts and severe eczema.
Is your child or are you at risk?
- > 4 or more new ear infection per year
- 2 or more sinus infection per year
- 2 or more month on antibiotics with little effect
- 2 or more pneumonia per year
- Recurrent need for intravenous antibiotics to clear infections
- Failure to thrive
- Recurrent viral infections (colds, herpes, warts, condyloma)
- Persistent thrush in the mouth of fungal infections of the skin
- Recurrent deep abscesses of the skin or internal organs
- Recurrent septicemia
- Infection with normal harmless tuberculosis like bacteria
- A family history of primary immunodeficiency
- More than one autoimmune cytopenia
What can you expect during your immunogenetics visit?
- Extensive review of the patient’s history and prior evaluation
- Complete physical examination
- Review of genetic test options and testing of the symptomatic individual (proband)
- Review of results with genetic counseling
- Detailed discussion of next steps which may include referrals to other specialties for management
Information and Appointments:
Call 718-741-2323 to make an appointment or send an email to mosebast@montefiore.org
Direction to the Immunogenetics Clinic at the Children’s Hospital at Montefiore: Click Here
Address: Children’s Hospital at Montefiore
Floor 5,
Bronx, NY – 10467