gradiaj+Severe+Combined+Immunodeficiency

Severe combined immunodeficiency is a potentially fatal- inherited disorder that the immune system has. The defect cannot fight off deadly infections. Most babies are diagnosed with SCID in the first six months of life. It is a mutation of the X chromosome and the immune cells cannot communicate with one another when invaders attack. Not enough T and B cells are produced to fight off infection, which leaves the body defenseless against sickness. The receptors that are tainted by the mutated chromosome are located in the immune cells causing all the trouble to not fight off sicknesses and infections.
 * Description: **


 * Inheritance: **

It is inherited by an X-linked recessive pattern, which is why it is referred to as X-linked SCID. Males are often more affected then females because males don’t have an extra X chromosome to makeup for the defective one. Girls can still carry the disorder, but since they have two X-chromosomes the healthy X makes up for the symptoms of the disorder. Females can still carry the gene and pass it on to their offspring, but are less affected by symptoms than men. So it is commonly inherited by genetics, and parents being carriers of the disease.


 * Symptoms: **

Symptoms usually appear in the first couple months after birth. The immune system is not strong enough to protect babies, which can lead to one infection after another. Without treatment children aren’t likely to live past two. Some life threatening infections could be pneumonia, meningitis, and sepsis.


 * Daily Life: **

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 * Diagnosis: **

This disorder or disease is diagnosed by removing and testing cells from the placenta, or by removing a sample of fluid surrounding the newborn. The most common screening test for Severe Combined Immunodeficiency is an immune test which takes a blood test detecting low white blood cell counts, and also low levels of immune cells as well (T and B cells.)


 * Treatment: **

Children with SCID must be cautiously careful, and stay away from germ infested environments (such as daycares, shopping malls) where they could pick up a potentially life threatening sickness. Bone marrow transplant is most affective which means that stem cells are taken from the blood and immune cells of a healthy donor, and injected into the patient. This will stimulate the amount of immune cells increasingly. Siblings are the best choice of donors because they match in genetics and tissue with their infected sibling.

Gene therapy is a possible treatment and prevention for this disorder. The therapy would compensate or make up for the faulty, mutated gene inherited by injecting healthy copies of gene into an infected patient’s bone marrow stem cells. This research is being looked at and conducted hoping to be successful too, and build a healthy immune system children are sometimes unfortunate to have.
 * Research: **

1) About one out of every 100,000 babies is born with SCID. Very slim, but could happen! 2) SCID is called the Bubble disease because a boy named David Vetter once had this disease, and lived in a life- sized bubble for twelve years in the 1970’s! <span style="color: black; font-family: Times,serif; font-size: 12pt;">3) <span style="font-family: Times,serif; font-size: 12pt;">A white ribbon represents SCID newborn screening foundations. The first conference was held in 2003 when the color of choice, and honor of the angels who take on this disorder.
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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square:[[image:gradiajpunnetsquare.png width="720" height="540"]] **


 * Pedigree chart:**

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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **


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 * <span style="color: #376092; font-family: 'Times New Roman',serif; font-size: 12pt;">Newspaper- American Society for Clinical Investigation **