Severe Combined Immunodeficiency – Fast Facts You Need to Know

November 12, 2012

Severe Combined Immunodeficiency - Fast Facts You Need to Know

Severe combined immunodeficiency, or SCID, refers to a group of rare inherited immune system disorders that are potentially fatal.

The Different Kinds of SCID

The most common kind of severe combined immunodeficiency out there is caused by an SCIDX1 gene mutation in the X chromosome, which stop the plasma membrane receptors in the immune cells from communicating. Because of this, they aren’t able to detect any invaders inside their environment or produce enough cells to battle the infection, thus leaving the body completely defenseless.

Another kind of severe combined immunodeficiency is caused by a chromosome 20 mutation and involves an ADA deficiency.

The Causes of SCID

The most common cause of SCID can be fou

nd in the genes. In fact, even if a person who has a defective chromosome doesn’t have the disorder himself, he could still pass it on from generation to generation. In other words, all it takes is a single inherited bad gene in order for the disorder to eventually come about.

The Different Symptoms of SCID

Most of the time, the symptoms of SCID will appear within the first couple of months of a baby’s life. Since the immune system doesn’t have the power to protect the bodies of babies with SCID, they could end up getting several infections in a row, some of which might even be fatal, such as pneumonia, sepsis, and meningitis.

The worst part is that antibiotics do not work on SCID patients, so they might end up getting sinus infections, ear infections, skin rashes and chronic coughs more frequently than normal. Since children with SCID usually never make it past two years old, an early diagnosis of this deficiency would definitely be of the utmost importance.

The Diagnosis of SCID

To identify severe combined immunodeficiency before a baby is even born, doctors can remove and test the mother’s placenta cells or fluid samples. However, most babies who have SCID are usually diagnosed within their first few months of life. Some common screening methods for these babies include blood tests and immune function tests.

The Treatment of SCID

Children who have SCID need to steer clear of environments that may be filled with germs at all costs, like shopping malls and daycare centers; otherwise, they might pick up potential fatal infections. One of the most effective severe combined immunodeficiency treatments out there so far would be the bone marrow transplant. However, gene therapy may soon be available to treat this disorder, as well.


Category: Articles