Newborn screening test can detect life-threatening immune disorder

Newborn screening test can detect life-threatening immune disorder


Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder of newborns that leaves the immune system unable to defend against infectious disease. It’s been estimated that this condition occurs in 1 in every 100,000 births. At present the treatment is a transplant of healthy cells from a donor, which is best done soon after diagnosis to improve chances that the child will not be devastated by infections. Recently, attention has been drawn to the importance of routinely screening newborns for SCID because the disease is not easily detected at birth. In February, 2009, Massachusetts began a pilot program offering newborn screening for SCID for all new births.


In an upcoming issue of the Journal of Allergy and Clinical Immunology, found online now at, Comeau and colleagues from the Massachusetts SCID Newborn Screening Working Group report the first case of SCID identified during this pilot program after screening 100,597 babies. The condition was detected before the infant experienced any symptoms. The child was kept at home in isolation to protect from infection prior to the infant’s recent transplant. The Massachusetts group points out that this screening assay meets testing requirement for SCID and supports screening newborns for SCID as an important step toward protecting children against this disease.


Jaime E. Hale, BS, Francisco A. Bonilla, MD, PhD, Sung-Yun Pai, MD, Jacalyn L. Gerstel-Thompson, MS, Luigi D. Notarangelo, MD, Roger B. Eaton, PhD, Anne Marie Comeau, PhD



The Journal of Allergy and Clinical Immunology (JACI) is the official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.


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