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"Irish" Mystery Malady
Joan Stephenson, PhD
JAMA. 1999;281:1784.
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Some 17 years ago, British researchers described an Irish family with an unusual inherited malady, one that caused periodic episodes of high fever, severe abdominal, chest, or joint pain, and skin rash in the affected family members. Last month, the condition became somewhat less mysterious when researchers from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMSD) and the Royal London Hospital School of Medicine and Dentistry reported the discovery of gene mutations underlying "familial Hibernian fever" (Cell. 1999;97:133-144).
The investigators found that patients from seven different families had mutations in a cell surface receptor for the inflammatory protein tumor necrosis factor (TNF). The new study revealed that mutations in the receptor cause a predisposition to severe inflammation triggered by minor trauma, emotional stress, or unknown reasons.
The new findings are expected to help scientists further understand the role of the TNF pathway . . . [Full Text of this Article]
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