Disorders

Severe Combined Immunodeficiency (SCID)

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Severe Combined Immunodeficiency (SCID) Newborn Screening was added to the Recommended Uniform Screening Panel (RUSP) in May of 2010 following rigorous state based implementation programs in Massachusetts and Wisconsin. SCID is a primary immune deficiency that is characterized by the lack of a functioning immune system. Newborns with SCID appear healthy, but remain extremely vulnerable to infection. Exposure to common infections or live vaccines is life threatening. SCID leads to death in infancy unless treatment, usually by stem cell trasnplantation, is provided. SCID affects approximately one in 58,000 live births and is treatable if detected early in life.

NewSTEPs partners with state newborn screening programs, partner organizations and federal agencies to provide a central location for SCID resources. If you have additional resources that you would like included, please contact Ruthanne Sheller.

Newborn Screening Status: Map of the screening status of newborn screening disorders in the US

SCID Compass: By the end of 2018, all 53 NBS programs within the United States and associated territories offered SCID universal newborn screening. APHL continues to support these NBS programs through a partnership, known as SCID Compass, with the Immune Deficiency Foundation (IDF), a patient advocacy group, and RTI International, a nonprofit resaerch institute. SCID Compass seeks to improve outcomes for infants with SCID by enhancing access to and use of educational resources, providing linkages to critical services for patients and families, and developing protocols and mechanisms for long-term follow-up for infants identified with SCID through newborn screening. More information can be found here

SCID Quarterly Webinar: NewSTEPs hosts a National SCID webinar every quarter. These webinars serve as a resource to the newborn screening and clinical communities, addressing challenges and successes faced throughout the newborn screening system. Please refer the NewSTEPs listserv for reminders, agendas and call-in information about these quarterly webinars. If you have ideas or suggestions for future webinars, please contact Ruthanne Sheller.

Data Collection: The collection of data from SCID screening will help ensure all babies are screened and receive appropriate follow-up of an abnormal screen. By providing this data and information on timeliness of diagnosis and treatment, a true pricture of national prevalence can be developed. NewSTEPs collects outcome data on SCID newborn screening, including quality indicators and basic information about the cases diagnosed with SCID. Specific data to be collected can be found in the NewSTEPs Data Repository.

Educational Resources: NewSTEPs has compiled educational resources that can be used to support screening efforts in states and regions. For all educational resources, pertinent publications and archived webinars please visit the NewSTEPs resource library and filter for SCID. NewSTEPs has published a report that provides a comprehensive overview of APHL SCID implementation activities resulting from the HRSA Cooperative Agreement, lessons learned and some notes on the future of SCID screening. This report may also serve as a guidance tool for NBS programs to reference when they are adding new disorders to their state panels. It explores the stages and complexities involved in successful implementation, including authorization, equipment acquisition, training, assay validation, pilot studies, short-term follow-up, clinical engagement and education.

Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommendations: