Newborn screening identifies Madrid’s first SCID case

The first case of Severe Combined Immunodeficiency (SCID) has been detected in Madrid through newborn screening.

Thanks to the quantification of TRECs (T-cell receptor excision circles) from the heel-prick test , it was possible to identify this severe primary immunodeficiency early and immediately refer the newborn to a specialized center to initiate treatment—most likely a hematopoietic stem cell transplant.

Back in 2017, the Hub's member BCN PID Foundation played a key role in promoting the inclusion of this test in the newborn screening program to detect so-called "bubble babies." Since then, they have helped save 9 lives—children who now have a new chance thanks to early detection.

This case highlights the clinical and life-saving value of expanded newborn screening for severe immunodeficiencies, and reinforces the need for its nationwide, uniform implementation. Including SCID in the program not only improves survival outcomes but also prevents serious infections and complications associated with late diagnosis.

BCN PID Foundation remains committed to a more preventive, equitable, and life-saving approach to medicine for all.

Read more HERE.