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Ellen McVay

Doctor at Johns Hopkins All Children’s Leads Groundbreaking Research

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

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,” says Dr. Leiding. “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.

Read the results of this research published in The Journal of Allergy and Immunology.


Funding from the following grants contributed to this work: National Institutes of Health (NIH) grants R13A1094943 and R01DK091374 and NIH grant U54 AI082973, Grants in Aid for Scientific Research from the Japan Society for the Promotion of Science (16H05355, 25713039, and 26293244), and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED). The authors were also provided support from the Jeffrey Modell Foundation.


About Johns Hopkins All Children’s Hospital

Johns Hopkins All Children’s Hospital in St. Petersburg is a leader in children’s health care, combining a legacy of compassionate care focused solely on children since 1926 with the innovation and experience of one of the world’s leading health care systems. The 259-bed teaching hospital, ranked as a U.S. News & World Report Best Children’s Hospital, stands at the forefront of discovery, leading innovative research to cure and prevent childhood diseases while training the next generation of pediatric experts. With a network of Johns Hopkins All Children’s Outpatient Care centers and collaborative care provided by All Children’s Specialty Physicians at regional hospitals, Johns Hopkins All Children’s brings care closer to home. Johns Hopkins All Children’s Hospital consistently keeps the patient and family at the center of care while continuing to expand its mission in treatment, research, education and advocacy. For more information, visit