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Severe Combined Immunodeficiency

Severe Combined Immunodeficiency Causes

Severe combined immunodeficiency is a group of inherited disorders that can be caused by mutations in the gene.

Severe Combined Immunodeficiency Definition

Severe combined immunodeficiency refers to a group of genetically inherited disorder which causes severe abnormalities in the immune system. These disorders result to reduced or impaired functions of the T and B lymphocytes. These are the specialized white blood cells processed in the bone marrow that fights infection. It is also known as the Boy in the Bubble Syndrome and referred to as the “bubble boy” disease because victims are extremely vulnerable to infectious diseases. This group of life-threatening diseases is present at birth and if left untreated may cause death in the first years of the child.

Severe Combined Immunodeficiency Diagnosis

A diagnosis of Severe combined immunodeficiency is generally based on the complete medical history in combination with physical examination. Confirming diagnosis is achieved with the aid of multiple blood tests. For newborns, there is still no available standard testing because of the non-uniformity of genetic defect. Usually, SCID is only detected during the sixth month because of the presence of persistent and chronic infections.

Severe Combined Immunodeficiency Symptoms and Signs

Symptoms of Severe combined immunodeficiency become noticeable during the first year. The most common symptoms may include: • Several serious and life threatening infections appear which are not easily treated and most of the time do not respond to treatment. This may include: pneumonia, sepsis and meningitis to name a few. • Chronic skin infections • Diarrhea • Infection of the liver • Yeast infections usually in the mouth and diaper area.

Severe Combined Immunodeficiency Treatment

The most effective treatment for Severe combined immunodeficiency is a bone marrow or stem cell transplant with the aim of developing new cells that will rebuild the immune system of the patient.

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