SCID- Severe Combined Immunodeficiency Disorder
- The gene that the mutation occurs in is the IL2RG (interleukin 2 receptor sub-unit gamma)
- The protein produced by this is Lymphocytes which are necessary for growth and maturing of developing in the immune system
- This disease was first discovered in Switzerland in Swiss infants. They were lymphopenic and died before they turned one or two.
Babies that had SCID were kept in these bubbles to prevent more sickness
- About 40-100 cases of SCID are detected each year in the United States itself, but it is estimated that about one in 50,000 or one in 500,000 infants have it all over the world. There are no specific populations affected by SCID.
- Symptoms include: High number of infections, infections that do not improve with antibiotics for two or more months, diarrhea, poor weight gain or growth, thrush, complete blood counts, or specific gene testing.
- Diagnosed by doctors testing the lymphocyte count because it will be very low. They also take blood to test for the numbers of B, T, and NK lymphocyte types
- There are multiple treatment options including: Isolation from other children preventing any other illness, Immunoglobulin Replacement Therapy, Bone Marrow Transplants, or an ADA infusion.
- There is no cure but children that get a bone marrow transplant have a better prognosis.
- Genetic pattern of inheritance is in an X-linked autosomal recessive pattern mostly in males.
- Doctors are now studying some approaches to improve bone marrow transplants since it has been the most effective way to help patients with SCID.