Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes.
What are symptoms of SCID?
- Pneumonia.
- Repeated ear infections.
- Meningitis.
- Blood infection.
- Chronic skin infections.
- Yeast infections in the mouth and diaper area.
- Diarrhea.
- Liver infection (hepatitis)
What are the types of SCID?
The most common types of typical SCID are: X-linked SCID, ADA SCID, RAG-1 or RAG-2 SCID, and IL7R SCID. X-linked SCID is caused by mutations on the X chromosome, and generally only occurs in boys.