A mutation of AP1S3 gene has been found in patients diagnosed with pustular psoriasis, which may lead to new treatments for the condition, according to researchers.

AP1S3 variants were found in all forms of pustular psoriasis but were present in a significant number of patients with acrodermatitis continua of Hallopeau and significantly underrepresented within patients with palmar plantar pustulosis, according to Francesca Capon, PhD, King’s College London, and colleagues. Their findings were published in the American Journal of Human Genetics.

After studying the DNA of nine patients with pustular psoriasis, researchers narrowed their focus to AP1S3, and studied the gene in 100 other patients. Gene mutations were present in approximately 6% of patients, the investigators found.

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AP1S3 silencing disrupted the endosomal translocation of the innate pattern-recognition receptor Toll-like receptor 3 and resulted in a marked inhibition of downstream signaling.

“Given that treatment with IL-1 blockers appears to be beneficial in at least some cases of pustular psoriasis, experiments focusing on IL-1 signaling deregulation would be of particular interest because they could deliver important insights into the workings of a druggable disease pathway,” the authors concluded.


  1. Capon F. Am J Hum Genet. 2014; 94:790–797.

Disclosure: The researchers received financial support Department of Health.