As a young researcher in training during the 1980s, Jennifer Puck, MD, helped care for the well-known “boy in the bubble,” who lived in germ-free isolation because of SCID, or severe combined immunodeficiency. Today, researchers know that SCID actually encompasses more than 12 known single-gene disorders that interfere with immune function. Children with SCID are born with faulty immune systems and can die from routine infections.
Today, these patients can be provided with functional immune systems through hematopoietic stem cell transplantation. The best outcomes for the therapy occur when transplantation takes place during the first days or weeks of life, before infections have occurred.
But early diagnosis of the condition often eludes physicians, said Puck, now a UCSF professor of pediatrics and human genetics and medical director of the Pediatric Clinical Research Center at UCSF Children’s Hospital. “The infections that SCID infants are suffering are simply not distinguishable early on from routine infections in otherwise healthy individuals,” she said.
In an article published in the December 2007 issue of Current Opinion in Allergy and Clinical Immunology, Puck reports that a consortium of physicians – called the SCID Newborn Screening Working Group – from throughout the country is now moving toward establishing universal screening of newborns for SCID.
“Because most SCID babies do not have a family history that alerts their doctors of their condition, we need other means for earlier diagnosis of cases, allowing for optimal treatment,” Puck said. “One test for SCID now being proposed would use the dried blood spots that already are collected from newborns for other genetic evaluations.
“Early recognition by pre-symptomatic screening would afford the ideal opportunity for effective treatment to achieve the best possible outcomes,” Puck said.
Neonatal screening for severe combined immune deficiency