The Center for Genetically-Driven Blood & Immune Disorders (GBIs)
Advanced Diagnostics & Longitudinal Care
Overview: What Do You Mean by Blood & Immune Disease?
Immunity is a process as old as life itself; it helps our cells recognize friend from foe and then respond appropriately. Our “professional” immune cells are part of the blood, but even our non-blood cells perform important immune functions. When put together, this leads to a formidable army of protection against germs and from attack by one’s own body. When the immune system does not behave the way it should, this may cause affected individuals to have a harder time fighting off infections or cause the body to be fighting itself when it shouldn’t. This leads to autoimmune disease, inflammatory problems or severe allergic symptoms. Some individuals may also have problems making normal blood cells or be at greater risk for developing cancer.
In addition to providing us with our “professional” immune armies, our blood cells also fulfill many essential nonimmune roles. These include carrying oxygen to all our tissues to enable them to function properly, healing wounds and helping us bleed and clot properly. Thus, when we do not have the right numbers or types of blood cells, or when they do not do their job the right way, many parts of our body may be affected.
We currently know of more than 600 individual GBIs and counting, but many other kinds of genetic diseases also have underappreciated blood and immune complications. We continue to learn more every day about known conditions, while also discovering new gene –disease relationships. Although many of these disorders are individually rare, as a group, GBIs affect a considerable number of people of all ages (some estimate at least one in every 1000–2000 people). What makes it even more confusing is that not everyone in the same family may be affected the same way, so everyone truly needs their own individualized care plan. Because these genetic conditions also tend to affect multiple parts of the body, children and adults with these conditions may often need to be taken care of by more than one type of healthcare provider.
What Do We Do Differently?
Montefiore Einstein provides one of the first and only clinics in the country dedicated to caring for GBI patients in a multidisciplinary and novel way. The goal of our specialty clinic is to provide comprehensive, iterative diagnostic evaluation and ongoing care for patients and their family members with suspected genetically-driven immune and/or blood disorders. We believe in the practice of holistic molecular medicine —we think about our patients as a whole and go beyond clinical labels to understand their underlying pathobiology in order to diagnose and treat them.
We make sure that the understanding and care of patients with complex immune and/or blood diseases is not fragmented. Moreover, we integrate our clinical expertise with a deep understanding of how to use and interpret the diverse molecular assays available for diagnosing these problems, whether genomics-based or otherwise. Our patients benefit from state-of-the-art, multimodal clinical diagnostic strategies, as well as the opportunity to participate in leading-edge, research-based diagnostic testing.
In addition to providing advanced diagnostics, we also collaborate with a multidisciplinary team of providers to deliver optimal, individualized therapies, regardless of whether or not patients have a molecular diagnosis. Finally, we coordinate surveillance and ongoing management for our patients and their family members, including providing appropriate counseling and testing for relatives who are potentially at risk.
How Do I Know if GBI Clinic May Be Right for Me?
We would be happy to see individuals with the following concerns:
- Recurrent, atypical, prolonged, severe, treatment-refractory and/or opportunistic infections
- More than one form of autoimmune disease, including recurrent immune-mediated cytopenias
- Lymphoproliferative disease, featuring progressive, persistent or recurrent enlargement of lymph nodes, spleen and liver not explained by infection or cancer
- Severe atopic (allergic) inflammation requiring systemic immune drugs
- Episodes of unexplained, acute, severe inflammation triggered by infection or other stressors, with a response significantly out of proportion to the trigger
- Persistent systemic or multisystem inflammation without any triggers
- Severe, treatment-refractory organ-specific, immune-mediated disease
- Recurrent, early-onset or atypical hematologic malignancies (e.g. leukemia or lymphoma)
- Bone marrow abnormalities, including myelodysplasia, aplastic anemia or pure red cell aplasia
- Red blood cell disorders, including suspected hemoglobinopathies, RBC enzyme defects or membranopathies
- Inherited platelet or bleeding/clotting disorders
- Defects in the complement system leading to thrombotic microangiopathy (TMA), hereditary angioedema (HAE) and/or other complications
- Familial mastocytosis or myeloproliferative neoplasms (MPNs)
- Immune and/or blood problems as part of a larger known or suspected syndrome (e.g. Trisomy 21 and other chromosomal aneuploidies, genome instability syndromes, epigenetic disorders, inborn errors of metabolism)
- A family history of GBI
For more information, please also see the following interviews with Dr. Peng:
What Can I Expect During My Clinic Visit(s)?
- Extensive review of the patient’s history and prior records
- Complete physical examination (at in-person visits)
- Diagnostic workup recommendations (genetic and nongenetic) for the symptomatic individual (proband)
- Informed consent counseling
- Coordination and interpretation of diagnosis and monitoring studies
- Review of results with post-test counseling
- Detailed discussion of next steps for diagnosis and/or management
- Iterative reevaluation with detailed characterization of patient’s specific expression of disease
- Ongoing collaborative longitudinal care including multidisciplinary treatment planning where relevant
- Provision of appropriate counseling and care for any other affected family members
- Opportunity to enroll in any relevant research studies at Montefiore Einstein and collaborating institutions
How Can My Provider Refer Me? How Can I Make an Appointment?
- Call our office at 718-741-2323.
- Please be ready to provide your demographic and insurance information.
- Send an email to Ms. Tricia Herbert (trelliot@montefiore.org) and Genetic Counselor Monisha Sebastin (mosebast@montefiore.org) with your demographic and insurance information.
- We accept most private insurance plans and self-pay options but are generally unable to accept out-of-state Medicaid/Medicare plans.
- Please note that we must have access to your prior medical records before seeing you for your first visit.
- You may qualify for a telemedicine visit; please inquire if interested.
Directions to the GBI Clinic at the Children’s Hospital at Montefiore Einstein: Click Here
Children’s Hospital at Montefiore Einstein
Floor 5
Bronx, New York 10467