This means that the substrates for this enzyme accumulate in cells. In another form of SCID, there is a lack of the enzyme adenosine deaminase (ADA), coded for by a gene on chromosome 20. Defective receptor pathways prevent the proper development of T-lymphocytes, cells that play a key role in identifying invading agents and activating other cells of the immune system. A mutation in JAK3, located on chromosome 19, can also result in SCID. Though invasive, new treatments such as bone marrow and stem-cell transplantation save as many as 80% of SCID patients.Īll forms of SCID are inherited, with as many as half of SCID cases linked to the X chromosome, passed on by the mother. Without a functional immune system, SCID patients are susceptible to recurrent infections and may die before the first year of life. The defining feature of SCID, commonly called “bubble boy” disease, is a defect in the specialized white blood cells (B- and T-lymphocytes) that defend us from infection by viruses, bacteria and fungi. SCID, or “bubble boy disease,” became a household name during the 1970’s with the filming of David Vetter, a boy who lived for 12 years in a plastic, germ-free bubble. They may include pneumonia, meningitis or bloodstream infections. Severe combined immunodeficiency (SCID) represents a group of rare, sometimes fatal, primary immunodeficiencies characterized by one or more serious, life-threatening infections within the first few months of life. Secondary immune deficiencies can be caused by exposure to radiation or toxic chemicals, chemotherapy, malnutrition and burns. When the damage is caused by an environmental agent, the resulting disease is referred to as secondary immune deficiency disease. Primary immune deficiency disease affect many thousands of children and adults in the U.S. According to the World Health Organization, there are more than 200 of these sometimes life-altering or life-threatening inherited defects – some are relatively rare, some are quite common. In the case of an inherited defect, the resulting disease is referred to as primary immune deficiency disease.
An immune deficiency disease may be caused either by an inherited defect in the cells of the immune system or by an environmental agent.
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