A recent Mayo Clinic study sought to understand the connection between a mother and son's health conditions and, along the way, discovered a broader implication for patients suffering from immunodeficiencies.

Researchers revealed what appeared to be two separate health conditions — a mother's cancer and her son's persistent viral infections — stemmed from a single, shared genetic variant in what is known as the IRF8 gene, an important component of the immune system.

On the surface, the son's and mother's clinical presentations appeared worlds apart. The son had a persistent Epstein-Barr virus infection along with numerous respiratory issues, whereas the mother had developed human papillomavirus (HPV)-related cancer.

Typically, the son would have been seen by infectious disease and pulmonary specialists while the mother would have gone to a gynecologist, with hardly any chance of professionals seeing a connection between the two and their respective conditions.

However, the boy's case, coupled with the discovery that his mother shared the same IRF8 variant and had developed an HPV-related tumor, sparked a deeper investigation among physicians and researchers at Mayo Clinic. Two Mayo clinicians, Thomas Boyce, M.D., initially, and Elizabeth Ristagno, M.D., subsequently were instrumental in acting as a bridge between the practice and research in this case.

"Finding the variant and proving its effect on the patients' immune systems made it clear that their different clinical manifestations had the same underlying biological cause," says Amir Sadighi Akha, M.D., D.Phil., a consultant and laboratory director at the Department of Laboratory Medicine and Pathology at Mayo Clinic, the co-senior author of the study. "In a way, our findings gave their condition a name."

Researchers emphasized the importance of team science in this achievement and that no single group has the expertise to tackle a study like this alone.

In this respect, the work done by a group led by Dan Billadeau, Ph.D., chair of the Department of Immunology and co-senior author of the paper, was crucial to understanding how this variant carries out its effects, says Dr. Sadighi Akha.

"Working on immunodeficiencies is exciting and challenging at the same time, particularly when the disease under study is extremely rare, such as this one," Dr. Billadeau says. "The only way to do it is through concerted efforts by physicians and scientists in different disciplines, as was the case here."

"The more we did, the more the effect of this genetic variant came into focus, and the more excited we became," Dr. Sadighi Akha says.

They underscore that the more people know about these diseases and their consequences, the more beneficial it could be to both patients and the broader understanding of immunological diseases, including how they lead to increased risk of infections and cancers.

They note that the methods used in this study and its findings could help identify other cases of immunodeficiency and play a role in deciding how best to treat them.

They also believe that Mayo Clinic is among a select group of institutions that can undertake this type of work.

Review the study for a complete list of authors, disclosures and funding.

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