Diseases Studied

Primary ciliary dyskinesia (PCD) is an inherited disorder that affects the tiny hair-like structures along the surface of many types of cells, particularly those of the respiratory tract, where they are responsible for transporting mucus up and out of the lungs and sinuses. In PCD, the cilia are abnormal and don't move correctly.

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Humoral immune deficiencies are a group of rare, inherited disorders that affect the immune system’s ability to make effective antibodies. Antibodies are proteins that help the body recognize and fight bacteria and viruses. In people with HID, these antibodies are missing, present in low amounts, or do not work properly.

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Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that affects mainly the lungs and liver. Normally, AAT is made in the liver and travels in the blood stream to the lungs where it helps shield lung tissue from damage caused by irritants in the air and infections. In people with the commonest forms of AAT deficiency (AATD, the abnormally formed AAT gets stuck in the liver causing liver inflammation and fails to get into the circulation in sufficient quantities to protect the lungs.

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Autosomal dominant hyper IgE syndrome (AD-HIES), also known as STAT3-HIES, is a rare inherited condition that affects the immune system and the development of certain tissues in the body. People with AD-HIES have difficulty fighting some infections, particularly those involving the skin and lungs, which often begin in childhood and may be severe or slow to heal.

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