Single Gene Links Susceptibility to Rare Infections with Predisposition to Autoimmune Disease

Monday, October 13, 2014 - 14:30 in Health & Medicine

The mutations were familiar, but the patients' conditions seemed baffling at first. A team lead by Rockefeller University researchers had linked variations in an immune gene to rare bacterial infections. Shortly afterward, Chinese scientists told them of three children in that country with mutated versions of the same gene. However, the Chinese children had no history of the severe bacterial infections. Instead, they had seizures and unusual calcium deposits deep in their brains.

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