Diagnosis of rare illness prompts global study led by USF- Johns Hopkins doctor

Oct. 26, 2017 — Jennifer Leiding, MD, an associate professor of pediatrics at USF Health Morsani College of Medicine and pediatric immunologist and allergy specialist at Johns Hopkins All Children’s Hospital, led a global study on a rare and often deadly type of immune dysregulation disorder. The study, published in The Journal of Allergy and Clinical Immunology, resulted in new research which could set the stage for life-saving treatments in the future.

Patient Nicholas, 8, with Jennifer Leiding, MD, USF’s medical director of the Multidisciplinary Immunology Service at Johns Hopkins All Children’s Hospital. Thanks to Dr. Leiding’s research, Nicholas is the healthiest he’s ever been.

Dr. Leiding’s accurate diagnosis of a young patient who had suffered with a mysterious illness prompted her to begin the study. Once the patient was confirmed as having a rare mutation in his immune system, called STAT1 Gain of Function (GOF-STAT1), Dr. Leiding began collaborating with specialists around the world who had treated patients with the same rare diagnosis who had undergone hematopoietic stem cell transplants. The researchers learned that bone marrow transplant as a potential therapy for GOF-STAT1 had not been studied.

“We are only beginning to understand how this mutation impacts patients’ immune systems, and what treatments and modalities can make a difference for them,” Dr. Leiding said. “More research in this area can surely help solve this puzzle.”

The findings reveal that while the risk is high, in some patients the transplant can provide a cure. The group of researchers hope to launch more in-depth studies later this year. Investigators are initiating a much larger prospective study to understand the strategy of transplant in patients with this rare disease and others like it.

Read more about the patient that prompted the global study on this autoimmune disorder.

The study was supported by grants from the National Institutes of Health, the Japan Society for the Promotion of Science, the Japan Agency for Medical Research and Development.  The authors also received support from the Jeffrey Modell Foundation.

-Story and photo courtesy of Johns Hopkins All Children’s Hospital