STRIDE: Study Targeting Recognition of Immune Deficiency and Evaluation
Icahn School of Medicine is a major referral center for infants, children, and adults, who have known or suspected primary immune deficiency diseases. We are taking the next step to help our patients, as well as those patients nationwide and globally by exploring new diagnosis and treatment therapies for these disorders. Researchers at Mount Sinai’s Human Immunodeficiency Diseases and Immuno-Reconstitution Laboratory launched STRIDE (Study Targeting Recognition of Immune Deficiency and Evaluation), which aims to evaluate data from patients with medical complications suggestive of immune deficiency to determine what immune systems may not be working normally. Our overall goal is to improve the quality of life for individuals with primary immune deficiencies.
Primary Immune Deficiencies Overview
Primary immune deficiencies encompass more than 150 hereditary diseases caused by defects in one or more genes responsible for the development of key components of the immune system. The type of the immune defect dictates in many ways, the age of the patient at which the immune defect manifests and the kinds of medical complications likely to develop. When a very essential component of the immune system is flawed, the age of onset of symptoms is usually in the first year of life; these defects can result in significant disease in these infants if not treated. The most severe forms are the genetic defects that lead to Severe Combined Immune Deficiency (SCID), sometimes called the “Bubble Boy Disease.” Treatment for this form of immunodeficiency is currently bone marrow or stem cell transplantation.
Many other known forms of primary immune deficiency are not treated with a stem cell transplant. These can be diagnosed in infants, children or adults. Some of the milder, but still very significant forms lead to the occurrence of many episodes of “ordinary” illnesses such as pneumonia, bronchitis, chronic sinusitis or ear infections. These conditions can be either overlooked or misdiagnosed as an allergy, asthma, or recurring bronchitis. When not addressed, primary immune deficiency can leave a patient vulnerable to prolonged illnesses, disability, and - in the most severe cases - organ damage.
Primary immune deficiency can be diagnosed through blood tests that evaluate immune functions. These tests are commonly performed in stages, based on clinical history, in order to narrow down the area of abnormality. Once diagnosed, patients will consult their physician about various treatments, which range from selected antibiotics to gamma globulin infusions and cytokine treatments. Other treatments include bone marrow or stem cell transplant. In the future, gene therapy may be possible for some severe forms. Primary immune deficiency is not AIDS. While both involve the immune system, primary immune deficiency occurs as a result of a genetic flaw while AIDS is an acquired immune defect due to infection.
Primary Immune Deficiency at Mount Sinai
Some immune defects are more common than others. Icahn School of Medicine is a referral center for infants, children, and adults, who have known or suspected primary immune deficiency diseases. During recent years, more than 1000 patients have been seen and evaluated. Approximately one half are children and the other half are adult. As many studies have indicated, the most common immune defects involve deficient production of antibodies.
Figure 1 shows the commonest defects seen in the last several years, based on percentages. Common variable immune deficiency, IgA deficiency, IgG subclass deficiency and transient hypogammaglobulinemia of infancy are some of the common immune defects that are associated with insufficient antibodies, but many other types of immune defects are also seen.
Lack of Recognition of Primary Immune Deficiency
Primary immune defects are believed to occur equally in all populations, races, and ethnic groups, but it has is very concerning that the diagnosis of primary immune defects patients varies considerably from one hospital to another and from one state to the next. For this reason, we have been investigating measures to enhance recognition and diagnosis of patients with primary immune defects at Mount Sinai area and developed an NIH-funded program based on a survey of the diagnoses of large patient groups to determine more about why this is so, and what measures can be taken to improve diagnosis.
Charlotte Cunningham-Rundles, MD, PhD
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