[Severe combined immunodeficiency: The time for newborn screening has come]

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Primary immunodeficiencies (PIDs) encompass ~350 genetic disorders impacting immune function.
• PIDs present with infections, autoimmunity, or tumors; severity varies greatly.
• Severe combined immunodeficiency (SCID) is a severe PID requiring timely treatment.

Purpose of the Study:

• To review SCID pathophysiology, diagnosis, and management.
• To highlight the need for neonatal screening for SCID in Chile.

Main Methods:

• Review of general concepts on SCID pathophysiology.
• Discussion of diagnostic challenges in Chile.
• Analysis of treatment outcomes for SCID.

Main Results:

• SCID is fatal within two years without timely diagnosis and treatment.
• Hematopoietic stem cell transplantation is the only curative treatment for SCID in Latin America.
• Limited diagnostic resources in Chile impede early SCID diagnosis.

Conclusions:

• Early SCID diagnosis and hematopoietic stem cell transplantation significantly improve survival rates.
• Neonatal screening for SCID is necessary in Chile to overcome diagnostic disparities.
• Implementing neonatal screening can save lives and improve outcomes for children with SCID.