SCID Full Form

SCID is the full form of Severe Combined Immune Deficiency, which comes under the group of some rare diseases. The disorder is caused due to mutation in several genes, which are mainly responsible for the function and development of immune-fighting cells. Such disorder is very severe, especially in infants who do not get immune-restoring treatments. It includes gene therapy and the transplant of blood-forming cells. Although, the development of screening tests for newborns has made it possible to identify SCID symptoms to get the life-saving treatments on time. Follow the write-up to understand the disorder in brief. 

Meaning of Severe Combined Immune Deficiency

Severe Combined Immune Deficiency is a rare genetic disorder, often more fatal in infants. Such a disorder leads to life-threatening problems in the immune system. The SCID is a primary immune deficiency or congenital syndrome with fewer immune responses. People who have minor infections of the disease are more likely to contract the life-threatening problems. The infections can result in the form of fungi, bacteria, and viruses. 

What happens in SCID?

In an infant, the immune system begins in the bone marrow. The three types of blood cells have stem cells inside. The three blood cells are red blood cells, white blood cells, and platelets. 

White blood protects the body from foreign invaders and infections. The blood cells involving the lymphocytes consist of two major types: the B-cells and T-cells. These are mainly responsible for fighting infections. The B-cells make the antibodies always ready when the body is exposed to the infection again. The T-cells detect and kill the invaders entering the body. In this situation, the SCID affects the fighting white blood cells, which is also considered combined immunodeficiency. In this disorder, very few lymphocytes in an infant’s body don’t work properly. As the immune system doesn’t work the way it should, the body can’t fight against the germs such as fungi, bacteria, and viruses causing infections.  

Causes of Severe Combined Immune deficiency 

There are various types of Severe Combined Immune Deficiency. The most common disorder is caused by a genetic problem in the X chromosome, affecting males. As the females inherit a normal X chromosome, their immune system fights against the infections. Hence, they are the carriers of such conditions. In contrast with the male body, they only have a single X chromosome. Therefore, if there is any abnormality in the gene, the disease occurs. 

Another type of Severe Combined Immune deficiency is caused by the problem with an enzyme that is essential for the development of lymphocytes. The other severe combined immune deficiency occurs due to several genetic deficiencies. 

Signs and Symptoms of Severe Combined Immune Deficiency 

New-borns or infants having SCID are healthy at birth. However, the problems start appearing soon, which include the following- 

• Chronic diarrhea
• Failure to thrive 
• Oral thrush’
• Frequent respiratory infections 
• The fungal, viral and bacterial infections that are hard to treat include sinus infections, ear infections, meningitis, skin rashes and pneumonia. 

Diagnosis of SCID

The healthcare experts take a simple blood test to monitor the new-born to identify various conditions that may lead to health problems like cystic fibrosis and cell diseases. The SCID screening for a new-born makes the diagnosis possible, and the induced treatment results in better outcomes. Screen suggestive SCID for new-borns refers to the doctors who conduct the genetic testing and blood test. 

Parents having a family history of SCID consider genetic counselling for early diagnosis resulting in better outcomes. However, if the genetic mutation resulting in SCID is known in a family, it is best to conduct the screening for the toddler as soon as possible. Infants not having the SCID family history are not detected until six months or more. 

How is SCID treated?

Severe Combined Immune Deficiency is a pediatric emergency. Without the treatment, the risk of not being able to survive more than one-year increases. The stem cell transplant often called the bone marrow treatment, is the most common treatment for the disease. In this treatment, a donor donates stem cells to the child to rebuild the damaged immune system. These stems are either donated by the parent’s cells or sibling. Often, healthcare experts use the stem cells of an unrelated donor if no match is found in the family. Some infants having SCID may require chemotherapy before the transplant. Those kids who undergo stem cell transplants in the initial months of their life are more likely to survive. 

Conclusion 

Infants with SCID may need repeated hospital stays and various procedures. SCID is considered the most severe disorder of Primary Immune Deficiency. Without proper and successful treatment for the SCID, a child is at constant risk of fatal infection. Hence, it is essential to conduct the diagnosis and screen test for the child before it’s too late.