The Bubble Boy Syndrome

A disorder discovered more than four decades ago is responsible for serious infections in children due to deficiencies in their immune systems. If not treated in time, this problem can put the life of the patient at risk.

Bubble boy syndrome is a disorder discovered more than fifty years ago. Infants who suffer from it have severe infections of various kinds. Its name derives from a deficiency of the immune system of the little ones at birth that their environment affects it completely.

Infants born with Severe Combined Immunodeficiency Syndrome (SCID) usually present an intense dysfunction due to the lack of T lymphocytes. These types of cells are responsible for offering the small cellular and humoral adaptive immunity.

To the aforementioned, the absence of B lymphocytes is also added, which represents a large number of asymptomatic lethal defects at birth. However, the signs of this condition usually appear after the first weeks of life.

Children who experience this type of disorder are extremely susceptible to massive infection. The simple environment that surrounds them can be fatal for them. The diagnosis is carried out through the sequencing of the fetal cell gene, which is obtained through prenatal diagnostic tests such as amniocentesis or chorionic villi.

Symptoms of bubble boy syndrome

• Numerous infections : they occur during the first weeks of life and can be really serious. Among them are pneumonia, meningitis, sepsis, among others.
• Chronic and persistent diarrhea : it occurs due to poor absorption caused by infections. It causes dehydration and weight loss, which can put the baby’s health at risk.

• Skin rash : it is the first symptom that appears, although at the beginning this syndrome is asymptomatic. It is usually erythematous and manifests itself throughout the child’s body.
• Neurological conditions : among these complications that occur more frequently in neonates with this disorder, deafness and visual problems can be mentioned.

• Compromised immune system : presenting this weakness implies that the child will develop multiple infections, either by bacteria, fungi, viruses or the so-called opportunistic microorganisms.

Therapies used in bubble boy syndrome

There are various methods to address this disease. The most frequent are:

• Stem cell transplantation. They are considered very effective if the transplant application is carried out before the first six months of life. If this treatment is applied during the first three months of life, the child has a very great chance of survival.
• Substitution therapies. They are usually used at the enzyme level, specifically when there is a deficiency of adenosine deaminase. In these cases, the enzyme combined with polyethylene glycol is injected, which usually alleviates the effects of the condition. However, it is an expensive treatment.
• Gene therapy. This therapy has advantages in terms of the selective growth of the cells that are transferred. Currently, it has been applied in many patients and the results have been satisfactory.

Early intervention

The first weeks of the baby’s life are crucial for the performance of these therapies, since in this period of time is when the infant retains maternal antibodies. It is the ideal time to undergo an intervention.

If you do not act quickly, the first infections will begin to appear, which in turn leads to increased morbidity. Then the therapies that can be applied will lessen their effect.

Parents of children with this disorder should be aware that, during the first two years of life, mortality is 100% if they do not intervene surgically.  That is why children with this condition are considered pediatric emergency.

It is important that information is disclosed to parents of children with bubble boy syndrome, as there is an approximately 25% chance of autosomal recessive transmission. This can lead to homozygous mutations; that is, the formation of an egg or zygote product of the union of two gametes that have one or two pairs of identical genes.

In this sense, 50% of the generations can be carriers of this gene. It should be noted that the mother is the carrier; has half the chromosomal load of probability.

In these cases, action should be taken as soon as possible once the disorder is detected. In this way, the probability that infections will affect the child massively, leading to a fatal outcome, is reduced.