Study identifies genetic cause behind Job’s syndrome

Washington, Sept 20 : Doctors from Methodist Hospital Research Institute have identified the genetic cause behind Job’s Syndrome, a medical condition thought to be suffered by Job, a prominent biblical figure who was afflicted with painful sores from the soles of his feet to the top of his head.

Job’s Syndrome, or Hyper IgE Recurrent Infection Syndrome (HIES), is a rare disorder of the immune system and connective tissue, characterized by boils, inflamed, irritated skin, bone abnormalities, teeth deformities and cyst-forming pneumonias. It was first described in 1966 and fewer than 250 cases have been reported since that time.

“The genetic origins of this disease have been a mystery since it was first identified decades ago,” said Dr. James M. Musser, co-director of The Methodist Hospital Research Institute and co-author of the findings.

“These results may lead to new diagnostic tests and new treatments to help patients afflicted with Job’s Syndrome.”

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

The study, conducted at the National Institutes of Health (NIH), spotted mutations in a gene that alters the immune system, the signal transducer and activator of transcription 3 (STAT3), as the cause of this debilitating disease, a deficiency of the immune system.

The research team sequenced the STAT3 gene and used molecular and bio-informatics tools to decipher the genetic defect that leads to Job’s Syndrome.

The growing field of bio-informatics works on the power of math and computers to make sense of the huge volume of data involved in molecular and genetic analysis. Future research on possible treatments for the disease can be targeted to this mutation.

The study is published in the New England Journal of Medicine this week (With inputs from ANI)

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