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Severe Combined Immunodeficiency (SCID)
Wednesday, 25 June 2003
Wednesday, 04 February 2004
Additional entries in our database that you might find useful:   Omenn's Syndrome | Bare Lymphocyte Syndrome | Nezelof Syndrome

What

A disorder characterized by an unusually large decrease in the number of antibodies. Antibodies are protein molecules produced by cells of the immune system that help fight infections, viruses, and other dangerous organisms that want to harm the body. SCID can cause the child to have a decreased or non-functioning immune system resulting in the inability for the child’s body to fight off infections.

Who

It has been estimated that approximately 1 in 100,000 children are born with this disease. The incidence may be higher because many children are not sick enough to be diagnosed with SCID.

Signs and Symptoms

Symptoms become very apparent in the first years of life. The child may experience numerous or serious life-threatening infections that do not respond to medications, are not easily treated, and affect the child for a prolonged period of time. Some infections include pneumonia, diarrhea, skin infections, yeast infections of the mouth and diaper area, chickenpox, and cold sores. A patient with SCID may also have chronic gastrointestinal and respiratory infections as well as a failure to grow and gain weight. SCID should be considered in any infant or child with a prolonged or unexplained chest disease or diarrhea.

Possible Causes

There are some forms that are inherited on the X chromosome and may mainly affect males (X-linked recessive) while other forms are acquired from both parents; each parent has a damaged gene that is passed on to the child.

Diagnosis

Early diagnosis is absolutely crucial to these children and should be done in infancy. SCID can be diagnosed with a complete blood count (CBC), which includes a differential of all white blood cells (WBC), a thorough medical history, and physical examination. White blood cells also called lymphocytes are found to be low (less than 1000 lymphocytes/mm3). Additionally, some immunoglobulins (IgG, IgA and IgM) are markedly decreased.

Treatment

The specific treatment for SCID will be determined by the doctor and is based on number of factors such as the child’s age and health, extent of the disease, expectations for the course the disease may go, the child’s tolerance for medication and procedures, and the opinion of the parents. The most effective treatment is a bone marrow transplant (BMT). A BMT involves taking the soft, spongy cells of the bone (that make and store blood cells) of a healthy donor and give them to the sick child. The goal is to provide healthy bone marrow cells to the sick child after their own bone marrow has been removed. BMT can, in most cases, cure the problem. The best donor is usually a brother or sister of the sick child but a parent works as well. After the transplant some children may need additional therapy with antibodies or immunoglobulins (big proteins that will help fight off infections). If the child wears a mask after the transplant, this can not only decrease the risk of contracting an infection, but also shows the public that the child is trying to avoid getting sick. Crowds should be avoided until it is known that the transplant is successful. This may take several months. Other treatment options are to give infections that help boost the immune system and treating each infection properly, early, and accurately. Additionally, children with SCID should not be immunized with live virus vaccines such as chickenpox (varicella) or MMR (measles, mumps, rubella). Children with SCID cannot defend themselves against even these weakened vaccines and the live viruses can be dangerous to the child.

Prognosis

This depends on early diagnosis. If the child goes untreated and undiagnosed, he or she may die within the first two years of life. However, with new advances, research and treatment, children with SCID can be successfully treated and go on to live normal lives. About 70% who undergo BMT will be successfully treated, and should have close to normal live expectancy, except for needing monthly intravenous doses of immune globulin (IVIG).

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The SCID Homepage
This website is the excellent for parents and patients. It has links to research news, family support groups, government sites, and genetics information. This is a good place to start.

Institute of Child Health
This website has great information on family dynamics of those that are affected with SCID, life at home for those that have a loved one with SCID, prenatal diagnosis, as well as additional resources. It’s easy to read and well organized.

American Association of Immunologists
This is the website for the American Association of Immunologists. It is a bit complex and hard to navigate but has good information about the latest research that is being done in this area and ongoing clinical trials.

Google Search for Severe Combined Immunodeficiency (SCID)

References and Sources

kidshealth.org./paretn/medical/allergies/severe_immunodeficiency_p3.html www.lpch.org/DiseaseHealthInfo/HealthLibrary/allergy/scid.html www.primaryimmune.org/pubs/book_phys/Phys_p06.htm