Overview

• Madrid's neonatal screening program identified its first case of severe combined immunodeficiency (SCID) in March 2025 through the routine heel-prick test.
• The affected infant, under one month old, is isolated at Hospital Gregorio Marañón and is being prepared for a hematopoietic progenitor transplant to establish a functioning immune system.
• SCID, often called 'bubble boy syndrome,' is a rare genetic disorder that affects about one in 50,000 children and leaves them highly vulnerable to severe infections without early intervention.
• The Community of Madrid added SCID and spinal muscular atrophy to its screening program last year, increasing the number of detectable conditions to 23.
• Regional health authorities plan to expand the program further by adding 12 additional diseases, improving early detection of congenital conditions for newborns.