Johns Hopkins Children’s Center and the Jeffrey Modell Foundation are joining forces in the fight against primary immunodeficiency disorders by expanding the Hopkins Children’s diagnostic program to help improve the detection of these rare and often mystifying conditions whose diagnoses are commonly missed and delayed.
The commitment establishes The Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies at Hopkins Children’s, which serves as the greater Baltimore area’s referral point for patients with suspected primary immunodeficiency disorders. The funding is provided by Talecris Biotherapeutics, a biotechnology company and a manufacturer of plasma-based products used in the treatment of rare disorders including immunodeficiency.
Primary immune disorders encompass about 150 conditions, many common and some rare, but all marked by a missing or poorly functioning immune system that makes people prone to repeated, serious and often devastating infections.
“Diagnosing a primary immune deficiency is often challenging and requires serious detective work, and timely recognition of such disorders is critical because a malfunctioning immune system can affect multiple organs and functions and lead to dangerous complications like heart, lung and neurological damage or slowed growth in children,” says immunologist Howard Lederman, M.D., Ph.D., the center’s director and a world-renowned expert on primary immune disorders.
“We welcome the establishment of the Jeffrey Modell Center, and believe it will assist in the diagnosis and care of patients with these complex conditions,” Lederman added.
The case of patient Clayton Cowan illustrates how tricky primary immunodeficiency disorders can be to recognize. At age 2, Clayton started having mysterious spiking fevers and developed a life-threatening pneumonia resistant to antibiotics that confounded many doctors. When he finally landed at Hopkins Children’s, Lederman suspected the cause and diagnosed Clayton with chronic granulomatous disease, a condition that occurs in one in a million people. Read Clayton’s story.
“There is a large under-diagnosed population of children and young adults suffering with these diseases and keeping them from enjoying a full life,” said Vicki Modell, co-founder of the Jeffrey Modell Foundation. “Their illness interrupts their activities, detours their plans, and shatters their dreams. We are honored that a world-renowned institution such as Johns Hopkins Children’s Center has joined our network of more than 100 centers around the world.”
Hopkins Children is an international leader in the study and treatment of a wide variety of inherited immunodeficiency disorders and home to the Hopkins Children’s Immunodeficiency Clinic, the Pediatric Immunology Laboratory and the Ataxia-Telangiectasia (A-T) Clinical Center, all directed by Lederman. The lab and the clinics are at the forefront of research to unravel the mechanisms and pathogeneses of a spectrum of inherited immune disorders. It specializes in the evaluation, diagnosis, testing, and long-term management of patients of all ages who have known or suspected primary immunodeficiency diseases.
The Jeffrey Modell Foundation, established by Vicki and Fred Modell in memory of their son Jeffrey who died at the age of 15 from complications of a primary immunodeficiency, is dedicated to early and precise diagnosis, meaningful treatments and, ultimately, cures of primary immunodeficiencies. It has funded more than 100 such centers in 56 countries.