Newborn screening for severe immunodeficiency: advantage in the case of early diagnosis and infection prophylaxis

IQWiG: The German Institute for Quality and Efficiency in Health Care (IQWiG) assessed the benefit of newborn screening for severe combined immunodeficiency (SCID). Without treatment most young children with SCID die within 1 to 2 years, as their immune response fails. The benefit assessment provides a hint of a benefit of newborn screening for SCID: An early test combined with infection prophylaxis and subsequent curative treatment (allogeneic bone marrow or stem cell transplantation) can prevent severe or deadly infections in affected children.

Bursting the Bubble of Bubble Baby Disease

UCLA: Only weeks after giving birth to fraternal twins in 2012, Alysia Padilla-Vaccaro felt something was wrong with one of her daughters, Evangelina. “I was told that it was the stress, or the fear of being a new mom, but I just knew something wasn’t right,” says Padilla- Vaccaro. “Then I was informed that Evangelina had absolutely no immune system, that anything that could make her sick would kill her. It was literally the worst time of my life.” The baby had a genetic condition called adenosine deaminase-deficient severe combined immunodeficiency, or ADA-deficient SCID. Often called bubble baby disease — children born with SCID must be kept in controlled, isolated environments — the condition can, if untreated, be fatal within the first year of life.

Severe combined immunodeficiency

Severe combined immunodeficiency (SCID, pronounced “skid”) is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T- lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. There are currently twelve known genetic causes of SCID. Although they vary with respect to the specific defect that causes the immunodeficiency, some of their laboratory findings and their pattern of inheritance, these all have severe deficiencies in both T cell and B cell function.
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