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Routine screening for SCID following a pilot study
Source: UCSF News
The US Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the ‘core’ conditions on the newborn screening panel in 2010 (see previous news). Following a pilot programme, California has now introduced routine screening for SCID using a simple PCR assay developed by UCSF researchers.
SCID is a term used to refer to a group related disorders characterised by the absence of T-lymphocytes, essential components of the immune system. The PCR assay developed by UCSF researchers detects circular DNA that has been isolated from dried blood spots. As circular DNA is a by-product of T-lymphocyte receptor formation, its absence suggests a lack of lymphocytes. If this is found to be the case, further investigations can be performed to confirm a diagnosis of SCID.
Children with SCID have no effective immune responses and are highly vulnerable to infections that would be harmless in a healthy person; early detection by newborn screening can help secure prompt treatment and protection from infection. Treatments such as bone marrow transplantation and gene therapy can cure the disease (see SCID.net), though these therapies are not without risks (see previous news).