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Possible cause for severe eczema has been found

Some patients living with severe eczema – a possible disqualifying factor for military service – have been found to have mutations on a gene called CARD11. Identified as a possible cause for the condition, the discovery can lead to exciting possibilities for advancements, according to the researchers. Some patients living with severe eczema – a possible disqualifying factor for military service – have been found to have mutations on a gene called CARD11. Identified as a possible cause for the condition, the discovery can lead to exciting possibilities for advancements, according to the researchers.

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For more than 17 million people in the United States living with severe eczema – a condition that results in dry, itchy rashes and disqualifies many from military service – the mystery behind its cause may be all too familiar. Thanks to researchers at the Uniformed Services University of Health Sciences and National Institutes of Health, certain patients may understand more about their condition.

“Studying these … disorders, especially when we can define the disease based on a single mutation, is incredibly informative because you can learn a lot,” said Andrew Snow, assistant professor in the department of pharmacology and molecular therapeutics at USU, and senior co-author of a study recently published in the journal Nature Genetics.

Researchers at the Uniformed Services University of Health Sciences and National Institutes of Health identified mutations in a gene known as CARD11 as one underlying cause for severe eczema. (U.S. Air Force photo by Senior Airman Ashlin Federick)Researchers at the Uniformed Services University of Health Sciences and National Institutes of Health identified mutations in a gene known as CARD11 as one underlying cause for severe eczema. (U.S. Air Force photo by Senior Airman Ashlin Federick)

In this study, mutations in a gene known as CARD11 were identified as one underlying cause for severe eczema. The discovery led the researchers to ask whether excess glutamine can help correct some of the allergy-related defects in patients’ immune cells. The testing was done with T cells, known as the conductors of the body’s immune response against infections, from one patient in a lab, and the results were promising. Additional work with the NIH to study whether symptoms for patients with similar mutations improve with glutamine supplements – a readily available product in stores – is likely, said Snow.

Severe eczema can run in families, which suggests a genetic cause, said Snow. One by one, Snow and NIH allergist Dr. Joshua Milner received referrals for patients who had mutations in the same gene – totaling eight patients from four different families.

“However, such treatments are not a cure for the cause of the disease, particularly if it’s a genetic cause,” said Snow.

During the study, researchers discovered these CARD11 mutations can prevent T cells  from being able to do their jobs normally. The mutations prevent the cells from taking in enough glutamine, which is needed for T cells to maintain their proper function. This may help explain why some patients with severe eczema have a history of pneumonia, warts, and other types of lung and skin infections, said Snow.

While a mutation in the CARD11 gene is only one possible cause for severe eczema, its discovery can influence new therapies. Current treatments, including over-the-counter and prescription pills or creams, focus on bringing down the inflammation and relieving the itching.

Jeffrey Stinson, a former USU graduate student in Snow’s laboratory, who is currently at the National Institute of Standards and Technology and co-author on the study, said the possibility of having something so easily accessible as a targeted form of treatment would be an incredible achievement for those living with severe eczema and other allergic symptoms.

“This genetic condition is considered rare, but it’s important to acknowledge the impact that findings from small, basic research studies like this can have in the medical field,” said Stinson, stressing that the research would not be possible without the time and participation of the families who volunteer. “Thanks to their dedication, we have new and exciting possibilities for advancement before us.” 

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