When a part of your immune system is not functioning properly, it can result in immune deficiency disease.
When the immune system attacks the body’s organs, tissues, or cells, a variety of diseases can result. Type 1 diabetes, rheumatoid arthritis, and inflammatory bowel disease are all common autoimmune conditions. Autoimmune disease can lead to generalized inflammation or organ impairment which may need additional investigation. Mount Sinai’s lab and diagnostic studies examine how the immune system deviates from normal levels. These studies give us an opportunity to provide personalized treatment plans for patients. At Mount Sinai, we are exploring how genetics is connected to autoimmunity and the treatment plans that are required.
While the causes of many autoimmune diseases are unknown, they are likely caused by a combination of genetics, infections, and other environmental exposures. As we gain a better understanding of how immune system alterations cause organ, tissue, or cell damage, new and targeted autoimmunity treatments are available for use.
Mount Sinai has pioneered much of the immune deficiency research for more than 25 years. Established by Charlotte Cunningham-Rundles, MD, our Primary Immune System Deficiency program focuses on the mechanisms and treatment of primary human immune defects.
Our other immune deficiency program works for patients with genetic and acquired forms of C1 inhibitor deficiency. This program led to a variety of clinical trials with novel agents designed to prevent medical complications from this severe immune defect.
Primary and Secondary Immunodeficiency Disorders
The two types of immunodeficiency disorders are primary and secondary. Primary immunodeficiency disorders (PID) are inherited. They are caused by genetic mutations. Secondary immunodeficiency disorders are acquired through environmental factors like viral infections or chemotherapy medications.
Patients who have immunodeficiency disorders have symptoms like diarrhea, inflammatory bowel disease, pneumonia and other lung diseases and persistent sinus infections, colds, and yeast infections. Autoimmune disorders occur when the body’s immune system is unable to determine the difference between healthy tissues and foreign and harmful entities. This can cause inflammation which leads to anemia, low platelet counts, gastrointestinal inflammation, arthritis, or type 1 diabetes.
While there are many different types of primary immunodeficiency disorders, they all share the genetic defect that harms the cells of the immune system. Initially thought of as a rare occurrence, these disorders occur now more than 1 in 10,000 cases in the United States. The National Institutes of Health estimates as many as six million people worldwide are living with PID.
One of the most common symptomatic group of PID syndromes is common variable immunodeficiency disease (CVID). One of the characteristics of CVID is the lack of specific antibody production to infections or vaccinations. While children can be diagnosed with CVID, 80 percent of cases are diagnosed between 20 and 40 years of age. Dr. Cunningham-Rundles, MD and her team of researchers have identified a number of mutations that lead to this immune defeat.