Winter 2012

SCID Legislation Emphasizes Rapid Diagnosis, Treatment

In August 2011, the California Legislature passed a bill to make the current pilot screening for severe combined immunodeficiency (SCID) permanent for all California newborns. In early October, the governor signed the bill into law.

Dr. Jennifer Puck

UCSF immunologist Jennifer Puck, M.D., an internationally recognized SCID expert, says, "Each year, universal screening could save the lives of 20 or more California newborns with SCID and other T-lymphocyte disorders that benefit from early, expert medical attention,” says Puck played a prominent role in the development and implementation of SCID screening.

A Successful Pilot

Early SCID diagnosis enables infants to receive a bone marrow transplant before they fall prey to infections that are often fatal, or can lead to permanent disability. Early transplants have a cure rate of more than 90 percent.

Knowing this drove Puck, in 2005, to develop a simple blood screening test based on measuring T-lymphocyte receptor excision circles (TRECs) in the dried blood spots already collected from all babies. TRECs are a byproduct of normal T-cell development, and, therefore, babies with SCID lack TRECs.

In the ensuing years, Puck nominated SCID for inclusion in the uniform newborn screening panel, and produced research for a federal advisory committee showing that:

  • SCID is treatable
  • Early diagnosis matters
  • Screening is cost-effective
  • There is a public health interest in SCID screening, since live rotavirus vaccine is now recommended for all infants, but is dangerous for those with SCID
Lab Scene

U.S. Secretary of Health and Human Services Kathleen Sebelius endorsed the advisory committee's recommendation of SCID screening, and in August 2010, California instituted a pilot program that tested each of the more than 500,000 infants born in the state each year. It found 20 infants with low T-cell counts, about one in every 25,000 births.

"Of those identified with low T cells, seven had SCID or Omenn syndrome, and the others had related conditions, including variants of SCID in which T cells are dangerously low," Puck says. "In addition to SCID patients who need a transplant, enzyme therapy or gene therapy, screening also flagged infants with known and previously unrecognized conditions."

UCSF's Pediatric Blood and Marrow Transplant Program, headed by Mort Cowan, M.D., is one of the few with the expertise to quickly perform the specialized bone marrow transplants geared to patients with immunodeficiency.

Follow-up Essential for All Immune Disorders

All immune deficiencies detected by TREC screening — including more common ones like DiGeorge syndrome — may pose risks of infection.

"For these in-between conditions, it's important to protect and follow the children, and to determine what their clinical course will be," Puck says. "Immunologists can work with primary physicians and families on keeping these young people safe while we're learning how their immune systems will develop."

Finally, she says, "It's important to understand that the screening does not pick up every kind of immune deficiency, so an infant or child who has excessive infections or poor growth should see an immunologist immediately."

For more information, contact Dr. Puck at (415) 476-2171 or [email protected].

Winter 2012 Table of Contents

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