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Study Identifies Genetic Cause of Previously Undefined Primary Immune Deficiency Disease BETHESDA, Md -- September 24, 2009 -- Researchers a have identified a genetic mutation that accounts for a perplexing condition found in people with combined immunodeficiency, which is characterised by a constellation of severe health problems, including persistent bacterial and viral skin infections, severe eczema, acute allergies and asthma, and cancer. The study is published in this week’s New England Journal of Medicine. Helen Su, MD, National Institute of Allergy and Infectious Diseases Bethesda, Maryland, and colleagues recognised that certain patients with an undefined form of combined immunodeficiency shared enough clinical features to make it likely that the cause might be a common genetic mutation. Originally, these individuals were thought to have a variant form of hyper-immunoglobulinema E syndrome (HIES). This newly described group, however, had far more severe eczema than is typical in people with variant HIES. They also had extensive and difficult-to-manage viral infections of the skin, such as warts, molluscum contagiosum, and herpes simplex. Some in this group also developed skin cancers, as well as lymphoma of the skin. “Even though these individuals were diagnosed with a more uncommon form of HIES, they were still considered to have a mystery disease, because they had severe allergies and had developed cancers,” said Dr. Su. Using comparative genomic hybridisation, the researchers examined the genes in the tissue samples from 5 different groups: the 11 individuals with the unknown immunodeficiencies, people with the variant form of HIES, people with classic HIES, those with other immunological diseases, and healthy individuals. The researchers discovered that people with the unique form of HIES had mutations in a gene called DOCK8 that led to deletions in parts of the gene. The normal function of DOCK8 is currently unknown. When compared with healthy individuals, the people with DOCK 8 mutations had fewer CD8 positive T cells, fewer antibody-producing B cells; and an increased numbers of eosinophils-immune cells associated with allergy. According to Dr. Su, these findings indicate that DOCK8 is essential for defense against viral infections and for preventing the development of cancer and allergies. Although further study is required to determine if DOCK8 mutations occur in other people with similar disease symptoms, DOCK8 immunodeficiency syndrome may be a new primary immune deficiency disease (PIDD). These findings mean that individuals with this rare disease will be able to receive a more accurate diagnosis. Identifying a genetic cause for the disease provided comfort to some of those diagnosed who had battled an unknown immune disease for years, according to Dr. Su. SOURCE: National Institutes of Health E-mail this page to a friend or colleague! To print, use this version