Other Newborn ScreeningNewborn ScreeningRUSP

Severe Combined Immunodeficiency

SCID

SCID encompasses genetic defects that abolish T-cell function, leaving infants vulnerable to severe opportunistic infections in early infancy. Hematopoietic cell transplantation or gene therapy can be curative when performed before overwhelming infection. T-cell receptor excision circle (TREC)-based newborn screening enables presymptomatic diagnosis and urgent immunology referral.

Prevalence
Approximately 1 in 58,000
Inheritance
Variable (X-linked or autosomal recessive depending on gene)
Screened at Birth
Yes
On RUSP
Yes (Recommended Uniform Screening Panel)

About This Data

This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.