Gene Mutation Link to Inflammation Identified

A loss-of-function change in a gene known as ADAM17 is likely to be the cause of neonatal inflammatory skin and bowel lesion in two children born to consanguineous parents, researchers reported.

This gene, situated on chromosome 2, encodes a protein that cleave membrane-bound tumor necrosis factor (TNF)-α, convert it to soluble TNF-α, according to David P Kelsell, PhD, of the London School of Medicine and Dentistry, and colleagues.

The two out of three affected siblings, one boy and one girl, both urbanized severe erythema and pustular rashes within two days of birth, and later show abnormalities of the hair and nails they also were susceptible to skin infections all through childhood.