Cold urticaria, a condition that causes people allergic to the cold to break out in hives, has been connected to a rare genetic mutation that also causes immune deficiency, autoimmunity and inflammatory skin disorders. According to MSNBC, researchers at the National Institutes of Health were able to identify the source of the allergy by studying three families who suffer from the condition.
Dr. Joshua Milner of the Laboratory of Allergic Diseases at the National Institute of Allergy and Infectious Diseases explained that the 27 people he and his research team studied also suffered from a wide range of other conditions such as food allergies, asthma, infections and inflammation. They were especially allergic to the cold, he said.
“The people in these families had cold urticaria from birth and cold environments could trigger hives as well as evaporation,” said Milner. “If they had wet skin and air blew past it, that would really trigger the cold symptoms. If they hopped in a cold swimming pool, they’d have a big problem. There was even a baby who at two weeks was put into a baby swing and the breeze from the baby swing made the baby break out in hives.”
Milner said the fact that the study participants were related made it easier for him and his colleagues to map the gene and locate the piece of missing DNA. Because of this deficiency, a gene called PLCG2 overreacted and caused antibodies to respond “in an abnormal fashion,” MSNBC reported. Researchers referred to the mutation as PLAID—PLCG2-associated antibody deficiency and immune dysregulation.
By identifying PLAID, Milner said people with cold urticaria may be able to find some relief.
“There are inhibitors out there to inhibit this gene,” he said. “So potentially, we could treat these patients after further research is done.”
Not all people with cold urticaria have PLAID, however, and patients should see their doctor to be properly diagnosed with the overactive gene.
