Severe combined immunodeficiency (SCID) is very rare genetic
disorder that causes life-threatening problems with the immune
system. It is a type of primary immune deficiency.
About 1 in 58,000 babies are born with
in the U.S. each year.
What Happens in Severe Combined Immunodeficiency?
In a developing baby, the immune system starts in the bone marrow. Stem cells there
can become any of three different types of blood cells:
red blood cells
white blood cells
platelets
White blood cells protect the body from infections and foreign invaders. There
are different kinds of white blood cells, including lymphocytes (lim-FOE-sites). Lymphocytes
come in two main types: B-cells and T-cells. These cells are key to fighting infections:
T cells identify, attack, and kill "invaders."
B cells make antibodies that "remember" an infection and are ready in
case the body is exposed to it again.
SCID (pronounced "skid") is a "combined" immunodeficiency because
it affects both of these infection-fighting white blood cells.
In SCID, the child's body has too few lymphocytes or lymphocytes that don't work
properly.
Because the immune system doesn't work as it should, it can be difficult or impossible
for it to battle the germs —
,
, and
— that cause infections.
What Causes Severe Combined Immunodeficiency?
There are different kinds of severe combined immunodeficiency. The most common
type is caused by a problem in a gene found on the X
and affects only males. Females can be carriers of the condition, but
because they also inherit a normal X chromosome, their immune systems can fight infections.
Males, though, have only one X chromosome, so if the gene is abnormal, the disease
appears.
Another form of SCID is caused by a deficiency of an
that is needed for lymphocyte development. Other types of SCID are caused
by a variety of other genetic problems.
What Are the Signs & Symptoms of Severe Combined Immunodeficiency?
Babies with SCID may appear healthy at birth, but problems can start soon after,
such as:
How Is Severe Combined Immunodeficiency Diagnosed?
Doctors use a simple blood test to screen
newborns for many conditions that could cause health problems, such as sickle
cell disease and cystic fibrosis. The conditions screened for vary by state, but all
now offer screening for severe combined immunodeficiency. Newborn screening for SCID
makes early diagnosis possible, and prompt treatment leads to better outcomes.
Babies with a newborn screen suggestive of SCID usually are referred to a doctor
specializing in immune deficiencies. The doctor will order other blood tests and possibly
genetic testing.
Parents who have a child with SCID or a family history of immunodeficiency might
want to consider genetic
counseling and early blood testing. Early diagnosis can lead to quick treatment
and a better outcome. It may also be possible to test a high-risk baby for the disease
before birth if the genetic
causing SCID in a family is known.
Children without a known family history of the disease or who don't have a newborn
screening often are not diagnosed until 6 months of age or older.
How Is Severe Combined Immunodeficiency Treated?
SCID is a pediatric emergency. Without treatment, babies are not likely to survive
past their first birthday. The most common treatment is a stem
cell transplant (also called a bone marrow transplant).
This means the child receives stem cells from a donor. The hope is that these new
cells will rebuild the child's immune system.
The most successful stem cell transplants use cells donated by a sibling. Sometimes,
a parent's stem cells are a match. If no family members are suitable donors, doctors
may use stem cells from an unrelated donor. Some children with SCID may need
chemotherapy before their
transplant.
A baby with SCID who gets a stem cell transplant in the first few months of life,
before getting any infections, is likely to survive.
Gene therapy as a treatment
for some types of SCID has shown promising results in clinical
trials, but has some risks so is not yet widely used. Research on gene therapy
for SCID is ongoing.
Children with SCID usually are cared for by a medical team of several specialists,
such as a:
pediatric immunologist
bone marrow transplant physician
pediatric infectious disease expert
Because children with SCID are at risk for life-threatening infections, they're
often started on medicines to help prevent infection. Some might need a regular infusion
to replace antibodies.
What Else Should I Know?
Besides medicines and therapies to help prevent infections, other precautions are
used. Children with SCID:
are placed in isolation to help prevent the spread of infection
who need blood transfusions must get blood that has been
specially treated to help prevent transfusion-related complications
may be stopped from breastfeeding until breast milk is checked for a virus that
may cause infection
How Can I Help My Child?
While your child is being evaluated for SCID, help reduce the risk of infection
by:
limiting visitors
avoiding public places
keeping your baby away from anyone with a cold or infection
making sure that caregivers wash
their hands well before touching your baby
Looking Ahead
Babies with SCID may need many procedures and repeated hospital stays. That can
be stressful for any family. But you're not alone. The care team is there for you
and your child before, during, and after treatment. Support groups, social workers,
and family friends can also lend a helping hand or understanding ear.
