The immune system incorporates different parts of the body – including certain blood cells, skin, bone marrow and more – that work to keep you healthy. The immune system protects you from infection by detecting and fighting diseases. If infectious agents such as bacteria or viruses get into your body, immune cells usually kill or overwhelm them, removing the infection. This is known as the immune response. Autoimmune diseases are caused by an overactive immune system, which can have an effect on healthy cells and tissue.
Autoinflammatory diseases are a type of autoimmune disease that often are experienced as recurrent fevers and inflammation of skin, joints, the lining of body cavities in the abdomen, and other organs.
Asthma is a chronic disease of the lungs characterized by airway inflammation causing swelling and excess mucous production. Asthma is classified as eosinophilic or non-eosinophilic, with 50% of severe asthma cases related to NEA. Many patients with NEA respond suboptimally to standard asthma treatments, especially to inhaled corticosteroids. This can lead to a higher severity of disease and more difficult-to-control asthma, which can be life-threatening for some patients.
ARDS is a condition that causes fluid to build up in the lungs. Fluid leaks from small blood vessels and collects in tiny air sacs in the lungs, preventing them from filling with enough air. Because of this, the blood cannot pick up the oxygen it needs to carry to the rest of the body, which can result in severe damage to other organs. ARDS can get worse quickly and is sometimes life-threatening. It is generally treatable, and most patients recover; however, fast diagnosis and treatment are important.
IBD is a broad term indicating chronic inflammation of the gastrointestinal (GI) tract and includes both Crohn’s disease and ulcerative colitis. An estimated 1.6-3.1 million adults in the United States (about 1.3%) have a diagnosis of IBD. In Crohn’s disease, inflammation may affect any part of the GI tract from the mouth to the anus but most commonly affects the end of the small intestine (ileum) and the beginning of the large intestine, or colon. Inflammation of the intestine may be continuous along the length of the bowel wall or interspersed between normal tissue. Ulcerative colitis affects only the inner lining of the large intestine (colon). In ulcerative colitis, the lining of the colon becomes inflamed and develops tiny open sores or ulcers as a result of the immune system’s overactive response.
Crohn’s disease affects nearly 800,000 individuals in the United States. It is most common in individuals between ages 15-35 and occurs more commonly in women than in men. Generally, Crohn’s disease is more severe among children and adolescents than adults. Ulcerative colitiscan occur at any age, although most people receive a diagnosis in their mid-30s, with men and women affected about equally. The risk of developing ulcerative colitis is greater (up to 30%)if a first-degree relative has been diagnosed with the disease.
An estimated 25-30 million people in the United States are living with one of more than 7000 types of rare disease. Most rare diseases are thought to be directly caused by changes in genes or chromosomes. In many cases, genetic changes that cause disease are passed from one generation to the next. Many rare genetic diseases are life-threatening, and most do not have treatments.
CDG represent a large group of rare inherited diseases affecting glycosylation, the process of adding sugar-building blocks (also called glycans) to proteins or fats (lipids). When these sugar molecules are added to proteins they form glycoproteins, and when they are added to fats they form glycolipids. This process involves many different genes encoding many different proteins, such as enzymes. Not having enough of one of these enzymes can lead to many symptoms and may affect multiple organs. CDG can affect any part of the body, can have a wide variety of symptoms, and can range from mild to severe, disabling, or life-threatening. CDG are usually present from infancy. Individual CDG are caused by changes (mutations) in a specific gene.