| SCID,
Severe Combined Immunodeficiency, is a primary immune
deficiency. The defining characteristic is usually
a severe defect in both the T- & B-lymphocyte
systems. This usually results in the onset of one
or more serious infections within the first few
months of life. These infections are usually serious,
and may even be life threatening, they may include
pneumonia, meningitis or bloodstream infections.
"This once-fatal disease should
be now seen as a pediatric emergency, a condition
that needs immediate diagnosis and treatment. says
Dr. Rebecca Buckley, chief of Duke's division of
pediatric allergy and immunology. "Early diagnosis
of SCID is rare because doctors do not routinely
perform a test in newborns to count white blood
cells. Such a blood test could pick up children
with SCID as well as those with other serious immune
deficiencies that would not be apparent until the
child developed an infection. A simple blood test
could allow us to treat, and most likely cure, SCID
in an infant at a reasonable cost. If found later,
less effective treatment can run into the millions."
Buckley states, "What we're saying is that
essentially every baby with SCID could be cured
if diagnosed early enough. SCID should be considered
a pediatric emergency."
SCID is often called "bubble boy disease".
SCID became widely known during the 1970's and 80's,
when the world learned of David Vetter, a boy with
X-linked SCID, who lived for 12 years in a plastic,
germ-free bubble.
There are several forms of SCID. The most common
type is linked to the X chromosome, making this
form affect only males. Other forms of SCID usually
follow an autosomal recessive inheritance pattern
or are the result of spontaneous mutations. One
of these other forms is linked to a deficiency of
the enzyme adenosine deaminase (ADA). Other cases
of SCID are caused by a variety of other defects.
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SCID Newborn Screening Campaign:
On January 21, 2010, the Advisory Committee
on Heritable Disorders in Newborns and
Children voted unanimously to add screening
for Severe Combined Immune Deficiency
or SCID - commonly known as bubble boy
disease - to the core panel for universal
screening of all newborns in the United
States.
On May 21, 2010 Kathleen Sebelius,
Secretary of Health and Services announced
the addition of Severe Combined Immunodeficiency
(SCID) to the core panel of 29 genetic
disorders as part of her recommendation
to adopt the national Recommended Uniform
Screening Panel. SCID is the first nominated
condition to be added to the core panel
of disorders.
SCID.net and The Immune Deficiency
Foundation endorse the recommendation
of the Secretary of the Department of
Health and Human Services and the Advisory
Committee on Heritable Disorders in
Newborns and Children that every State
screen newborn infants for Severe Combined
Immunodeficiency Disease (SCID).
We want every state to include SCID
Newborn Screening on their newborn screening
panel immediately to save lives. We
need the help of volunteers in every
state to encourage the state governments
to follow Secretary Sebelius's recommendation.
For more information and to download
a Toolkit to help you work with your
state please visit the IDF's
SCID Newborn Screening Campaign
and the IDF
Newborn Screening Blog.
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CDC Announces Live Rotavirus
Vaccine Contraindicated for Infants
with Severe Combined Immunodeficiency:
There are two makers of live rotavirus
vaccines. They are GlaxoSmithKline Biologicals
(Rotarix) and Merck (RotaTeq). On June
11th 2010, the CDC announced the addition
of Severe Combined Immunodeficiency
to the list of contraindiations for
both vaccines. While the rotavirus vaccines
can reduce the risk of rotavirus disease
severity and even fatality in normal
healthy infants, there have been several
documented cases of vaccine acquired
rotavirus in infants who were undiagnosed
with SCID at the time the vaccine was
given. The CDC recommends starting the
first dose of rotavirus vaccine when
an infant is 2 months old. However,
without newborn screening or a family
history of the disease, most SCID infants
are not diagnosed until after 4 months
of age and could potentially receive
two doses of the vaccine before the
diagnosis is made.
Before administration of rotavirus
vaccines, pediatricians should: review
the contraindications, review the family
history for suspected immunodeficiency,
and if possible check the number and
percentage of lymphocytes in a Complete
Blood Count (CBC) with differential,
because most SCID infants present with
significant lymphocytopenia for their
age. Pediatricians should also follow
up all infants receiving rotavirus vaccines
for persistent diarrhea and should consult
a clinical immunologist if necessary.
Newborn screening for SCID will provide
a consistent method for pediatriicans
to know their patients have been screened
before administering the vaccine. It
is imperative that all states add SCID
Newborn Screening to their core panels.
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