Genetic Cause of Rare Immune Disorder Discovered

The genetic cause of Job’s Syndrome — a rare disorder of the immune system and connective tissue — has been identified by U.S. researchers.

People with the disorder suffer boils, inflamed skin, bone abnormalities, teeth deformities and cyst-forming pneumonias. There have been fewer than 250 reported cases of the disease — named for the Biblical figure Job who had painful sores over his entire body — which was first described in 1966.

The disease is also called Hyper IgE Recurrent Infection Syndrome.

“The genetic origins of this disease have been a mystery since it was first identified decades ago. These results may lead to new diagnostic tests and new treatments to help patients afflicted with Job’s Syndrome,” study co-author Dr. James M. Musser, co-director of the Methodist Hospital Research Institute in Houston, said in a prepared statement.

In this study, conducted at the U.S. National Institutes of Health, Musser and his colleagues identified mutations in the signal transducer and activator of transcription 3 gene as the cause of Job’s Syndrome.

The researchers made the discovery using molecular and bioinformatics tools. Bioinformatics uses math and computers to interpret the huge amount of data involved in molecular and genetic analysis.

“Although this is a rare disease, the novel strategies we developed can be applied to many other genetic diseases of unknown cause,” Musser said.

The study is in the Sept. 20 issue of the New England Journal of Medicine.

SOURCE: Methodist Hospital, news release, Sept. 18, 2007