February 24th, 2010 | Author: jordannajoaquina
Recently, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the universal newborn screening panel. The American College of Medical Genetics (ACMG) and the Immune Deficiency Foundation both support this recommendation. SCID is the first condition to be added to the universal screening panel since the ACHDNC adoption of over 20 recommended conditions in 2005.
SCID refers to a group of genetic condtions that cause immune system dysfunction. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. The organisms that cause infection in people with SCID are described as “opportunistic” because they ordinarily do not cause illness in people with normal immune systems.
Infants with SCID typically experience pneumonia, chronic diarrhea, widespread skin rashes and much slower growth than healthy children. Some affected individuals also have neurological problems such as developmental delay, movement disorders and hearing loss.
X-linked SCID is the most common form of severe combined immunodeficiency. The exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 births. X-linked SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner.
Adenosine deaminase (ADA) deficiency is a rarer form of SCID, affecting about 1 in 200,000 to 1,000,000 newborns worldwide. ADA deficiency is responsible for approximately 15% of SCID cases. ADA deficiency is caused by mutations in the ADA gene and is inherited in an autosomal recessive manner.
Other forms of SCID are caused by mutations in other genes and typically inherited in an autosomal recessive manner.
Support services can be found at the Immune Deficiency Foundation website.