Immune Cell Deficiency
Job's syndrome, a rare immune disorder characterized by recurrent infections which lead to abscesses and boils has just gained a bit of ground as scientists report the second major breakthrough on the disease this year. In addition to bacterial and fungal infections, the disease causes a host of other symptoms and ailments including lung infections, facial and dental development issues, curvature of the spine, and bone fractures. With lots of medical supervision, people with the syndrome can have a normal life expectancy, though complications due to infections are a continual concern.
Now, National Institutes of Health (NIH) researchers have found that Job's patients are missing the white blood cell known as Th17 cell and this makes them vulnerable to infectious agents. This research was the result of collaboration between scientists at the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), all branches of the NIH.
Known for the major role they take in fending off invading pathogens, Th17 cells create the protein called interleukin-17 (IL-17). These cells help to bring microbe fighting neutrophils to areas of infection. All of the 13 Job's patients in the study lacked these cells. These findings suggest that Th17 cells help control Staphylococcus bacteria and some fungal infections.
Halt The March
Job's syndrome was first identified in 1966. Since that time, only 250 cases of the disease have been reported. In September 2007, NIAID had its first significant research finding on the disease: a mutation in the gene which makes a protein that signals the immune system to halt the march of pathogens. This latest study was led by Daniel Douek, M.D., Ph.D., chief of the Human Immunology Section of the NIAID Vaccine Research Center.
The technical name for Job's syndrome is hyperimmunoglobulin E syndrome, or HIES. Those who suffer from the condition have higher levels of immunoglobulin E (IgE) antibodies. Researchers hope to do more research to discover the relationship between Th17 cells and the individual's level of IgE antibodies. Scientists want to discover whether the absence in Job's patients of Th17 cells has an effect on the immune system that results in increased levels of antibodies. Researchers anticipate that such insights will lead to a greater understanding of why Job's syndrome sufferers fall prey to recurrent infections with both fungus and Staphylococcus bacteria.