ADA- SCID: Causes, symptoms and treatment


Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) is a serious inherited disease, that makes the immune system of the body, unable to fight off even mild infections on its own. Mutation in the ADA genes will lead to, body not making enough of a certain tool, called an enzyme, that helps the white blood cells protect one from getting sick. Without that protection, you can easily get infections.

Causes of ADA- SCID

Adenosine deaminase deficiency (ADA) is caused by the mutation in the ADA gene, which is responsible for making an enzyme that is found in lymphocytes. The function of ADA gene is to convert a substance called deoxyadenosine, which is harmful to lymphocytes. So, mutation in the gene will lead to deoxyadenosine build up, due to which lymphocytes will be unable to grow and fight infection, resulting in severe combined immunodeficiency.

Heredity and ADA- SCID


In this article, 3MEDS, the best online pharmacy store in India, will the explain the genetics behind the condition. ADA- SCID is inherited in an autosomal recessive manner, which means that to have symptoms of ADA deficiency a person must have a mutation in both copies of the responsible gene in each cell. The parents of a child with ADA deficiency usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Symptoms of ADA- SCID

Some of the common symptoms of ADA- SCID is to infect the following organs,

·         Ear

·         Sinus

·         Mouth

·         Lung

·         Skin

Other symptoms include,

·         Diarrhea

·         Skin rashes

·         Delayed progress in development areas like motor and social skills

·         Slow growth

Diagnosis of ADA- SCID

Some of the primary test recommended by a doctor for newborns are,

·         Screen newborn

·         Blood test like testing for immunoglobulins and white blood cells

·         Genetic testing, to identify mutations in the ADA gene

·         Genetic counselling

At times, to understand the condition better, doctors may ask certain questions like,

·         What kind of infections have you or your child had?

·         How long did they last?

·         Did they go away after treatment?

·         Did they come back?

·         Does anyone else in your family have immune system problems?

·         Has anyone in the family had genetic testing?

Treatment for ADA- SCID


The only way to cure ADA-SCID is with a stem cell transplant. Doctors will put healthy stem cells into your body to try to rebuild your immune system. It’s most successful in infants, and when the donor stem cells come from a close relative. In some cases, people need chemotherapy before getting a transplant to kill damaged cells first. Enzyme replacement therapy (ERT) may help your immune system work better and prevent infections. In this therapy, you get injections of healthy enzymes, usually from a cow.

The doctor may prescribe antibiotic, antifungal, or antiviral medications to treat any existing infections, like, Pegademase bovine or Adagen and Elapegademase-Ivlr or Revcovi. One can purchase the medications at any online chemist shop.

Home care

·         Wash your hands often, stay away from people who are sick, and talk to your doctor before getting any vaccinations.

·         Don’t get any vaccines that are made with live viruses including rotavirus, MMR, chicken pox, and the flu vaccine that comes in mist form.

·         Eat right, exercise, and get enough sleep to help your body stay healthy.

·         Stay in close contact with your doctor and keep up with your check-ups.

·         Get support from other families living with the disease. Talk through your challenges, and get tips for making your daily life easier.

Ending note

ADA is a genetic disorder that damages immune system leading to severe combined immunodeficiency (SCID). Most individuals are diagnosed of this condition by first six months of life. If the condition is untreated or ignored may result in chronic lung damage, malnutrition and other health complications.


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