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Aurora magazine

Severe combined immunodeficiency: what it is and how it manifests itself

Severe combined immunodeficiency is a rare congenital disorder characterized by impaired immune responses. The disease is inherited mainly from the mother. The children who suffer from it are almost free of T and B lymphocytes, as well as other defense mechanisms of the organism.

Children who suffer from severe combined immunodeficiency are also called "bubble children". The name derives from the need to keep those who suffer in a bubble, almost literally. An emblematic case was that of David Vetter, who lived for 13 years in an isolated and germ-free room. Any contact with the outside would have killed him, David being completely devoid of natural defenses.

In this form of immunodeficiency, the body becomes ultra-sensitive to infections. Even the most trivial disorder can be lethal for those suffering from this disease. On the other hand, an early diagnosis followed by ad hoc treatment can save the lives of many children.

Although severe combined immunodeficiency is caused by various genetic abnormalities, the symptoms are always the same. The typical sign of the disease is an increase in vulnerability to serious infections, such as pneumonia, meningitis and sinusitis. Sick children also suffer from a chronic form of diarrhea and are less receptive to traditional treatments. In the presence of all these symptoms, diagnostic tests should be performed as soon as possible.

Diagnosis usually occurs through a blood test. Doctors verify the presence - or rather, the absence - of B and T lymphocytes and antibodies. Unfortunately, the early diagnosis of the disease is infrequent: the first clinical manifestations appear weeks after delivery. During this time, the baby has come in contact with numerous germs that may have compromised his organism.

In the event that parents know they are healthy carriers, it is possible to perform a fetal DNA test. This allows immediate intervention and guarantees a better future for the child.