Contents:
- Medical Video: Severe combined immunodeficiency
- What is bubble boy disease?
- The cause of the disease of the bubble boy disease
- Symptoms of the disease of the bubble boy disease
- Treatment of diseases of the bubble boy disease
Medical Video: Severe combined immunodeficiency
Have you ever heard of bubble boy disease? It may sound like a gum brand name if you don't add the word "disease". However, you need to know that this is one of the names of diseases of the immune system and can threaten the lives of sufferers. Consider the following review regarding the disease of bubble boy disease.
What is bubble boy disease?
This disease actually has the name Severe Combined Immunodeficiency (SCID). This represents a rare and fatal group of birth defects due to too weak or the absence of an immune system response in the body.
However, this disease is better known as bubble boy disease because it tends to occur in male infants. At birth, the baby must spend his life in germ-free isolation (sterile bubbles).
This disease occurs because the immune system cannot protect the body from viral, bacterial, and fungal infections. Without a functional immune system, SCID patients are prone to recurrent infections, such as pneumonia, meningitis, and chickenpox. Patients can die even before one to two years of age if they don't get the right treatment.
The cause of the disease of the bubble boy disease
The cause of SCID disease depends on different genetic conditions. Following are four causes of SCID, namely:
- Reporting from NCBI, half the cases of SCID are derived from the mother's X chromosome. The chromosome is damaged so as to prevent the development of T-lymphocytes that play a role in activating and regulating other cells in the immune system of the body.
- The deficiency of the adenosine deaminase (ADA) enzyme that causes lymphoid cells to not mature properly, makes the immune system less than normal and becomes very weak. This enzyme is needed by the body to get rid of toxins in the body. Without this enzyme, toxins can spread and kill lymphocytes.
- The lack of nucleoside purine phosphorylase which is also a result of a problem with the ADA enzyme, which is characterized by neurological abnormalities.
- Lack of MHC class II molecules, which are special proteins found on the cell surface and play an important role in bone marrow transplantation. This causes the immune system to be disrupted.
Symptoms of the disease of the bubble boy disease
Reporting from Medicine Net, usually three-month-old babies tend to experience thrush or diaper rash that does not heal. It can also continue to weaken because of chronic diarrhea, so the baby may stop growing and lose weight. Some children develop other severe illnesses such as pneumonia, hepatitis, and blood poisoning.
Viruses that are not harmful to normal babies can be very dangerous in infants with SCID. For example a virus Varicella zoster causes of chickenpox that can trigger severe infections in the lungs and brain in infants with SCID.
Treatment of diseases of the bubble boy disease
Reporting from WebMD, Dr. Ewelina Mamcarz, a chief researcher and member in Bone Marrow Transplant Department at St. Jude Children 's Research Hospital said that after decades, research began to find a cure for this disease. Six of the seven babies who were treated using gene-based therapy for four to six weeks, now can get out of the hospital following outpatient care. Only one baby is left waiting for the process of building his immunity.
Gene therapy prioritizes damaged X chromosome healing. The findings so far show that this effect will last a lifetime so that the treatment is carried out once, not repeatedly. This therapy is done using the HIV virus that has been modified to bring new genetic material that will change the damaged genetic makeup of the spinal cord.
However, this is not enough. To prepare the spinal cord for genetic changes, previously the baby was given the busulfan chemotherapy drug. Giving chemotherapy drugs is done by using an infusion device arranged with a computer so that dosing is appropriate only to prepare for the introduction of genetic change and nothing more.
Until now researchers are still monitoring these babies to find out if they remain stable and have no side effects from the treatment. Researchers also want to find out how the bodies of these babies respond to immunization. However, in the findings so far researchers are quite optimistic that this treatment produces permanent results.
