GOSH BRC team define a new autoinflammatory disease caused by a mutation in WDR1

Research carried out by BRC-funded Professor Paul Brogan and his team has defined a new autoinflammatory disease (AID) in humans with periodic fevers, immunodeficiency and intermittent thrombocytopenia.

AIDs are a group of diseases that cause systemic inflammation caused by abnormalities in the innate immune system. Recently a new AID, which is caused by a recessive mutation in the WDR1 gene, has been described in an animal model. This study identified a family with severe AID displaying similar features to those displayed in the WDR1 deficient mice.

The two patients described, exhibited severe oral inflammation with scars, periodic fevers with immunodeficiency and thrombocytopenia (low blood platelet count) and findings revealed both patients to have a homozygous missense mutation in WDR1, resembling that exhibited in the WDR1 mutated mice. These findings extend the findings from the animal model and highlight the importance of WDR1 in the activation of the inflammasome and in human autoinflammation.

These findings have been published in The Journal of Experimental Medicine.