Chief, Division of Pediatric Allergy and Immunology
When Hey Jin Chong, MD, PhD, saw the patient – a man in his early 20s – in her primary immunodeficiency clinic at UPMC Children’s Hospital of Pittsburgh, something didn’t seem right to her.
He had been ill with infections since age six, had been hospitalized multiple times, and had almost died of pneumonia. He had been diagnosed with hyper IgM syndrome, a rare type of primary immunodeficiency in which part of the immune system (the body’s defense against infections) was missing or didn’t work properly.
The patient was receiving treatment to strengthen his immune system, which had helped reduce his susceptibility to infections. But he still had an enlarged spleen, swollen lymph nodes, a chronic cough, and constant fatigue and shortness of breath. He had dropped out of college and wasn’t able to work because of his poor health.
“I thought that his symptoms didn’t fit a diagnosis of hyper IgM syndrome,” says Dr. Chong.
But she thought of a diagnosis that did seem to fit the patient’s constellation of symptoms. A genetic evaluation confirmed her hunch: The patient had a condition known as PI3K disease––a disorder so new that it was described for the first time only in 2013.
In PI3K disease, a faulty gene causes over-activation of part of the immune system. This sets off a chain reaction that disrupts the development of infection-fighting white blood cells, increases risk for infection, and leads to swollen lymph nodes, an enlarged spleen, and breathing problems.
Then Dr. Chong located a study at the National Institutes of Health that was recruiting patients with PI3K disease. The young man enrolled in the study – and it’s changed his life.
“Now he takes one pill a day,” she says. “His spleen and lymph nodes are no longer swollen, and he has enough energy to walk several miles every day. He says that for the first time he feels full of life, and he’s considering going back to college.”
For Dr. Chong, this young man’s case illustrates how pinpointing the faulty gene underlying a patient’s symptoms can lead to a transformative outcome – and it’s the type of medical mystery that she loves to solve.
“This work is a perfect blend of my science and medical backgrounds,” she says. “In my primary immunodeficiency clinic, I’ve cut a piece of a child’s hair and looked at it under a microscope to help me come up with a diagnosis. I enjoy being able to put a name to the symptoms a patient has and open up the possibility of better – maybe even curative – treatment.”
After graduating from Virginia Commonwealth University School of Medicine in 2005 with both a medical degree and a doctorate in immunology, Dr. Chong completed a residency in pediatrics at the University of Chicago Comer Children’s Hospital and a fellowship in allergy and immunology at Brigham and Women’s Hospital in Boston.
She joined UPMC Children’s Hospital in 2011 and now serves as Chief of the Division of Pediatric Allergy and Immunology. She is also an assistant professor pediatrics in the Division of Allergy and Immunology at the University of Pittsburgh School of Medicine.
Dr. Chong’s background in immunology enables her to draw on a network of researchers and specialized labs around the country, who assist her diagnostic work by performing highly sophisticated laboratory and genomic tests.
At the Center for Rare Disease Therapy at UPMC Children’s, Dr. Chong’s role often involves evaluating patients with immune disorders to determine whether they are candidates for a bone marrow transplant.
“A bone marrow transplant can be curative for patients who have significant immune-system defects that greatly increase their chance of dying from infection,” she explains. “We will also consider transplanting patients who have an overactive immune system or who have side effects such as the immune system attacking their own blood cells. If the problem can be fixed by giving the patient new blood cells, then the patient is a candidate for a transplant.”
What’s special about the Center for Rare Disease Therapy, says Dr. Chong is “doctors from different specialties collaborating to put the puzzle pieces together and see the whole patient. Each of us has something different to contribute.”
