X-Linked Severe Combined Immunodeficiency Syd Boyer

What is It?

  • Immunodeficiency disease that causes the patient to have low amounts of T-cells and lymphocytes, which results in an extremely weak immune system
  • X-linked recessive disease
  • Caused by a mutation on the IL2RG gene and produces the Cytokine Receptor protein


  • Usually diagnosed when the baby is 6 months old
  • Occurs in about 1/50,000-100,000 people
  • Symptoms: severe diarrhea, pneumonia, skin rashes, and thrush
  • Most hospitals perform diagnostic tests once the baby is born
  • Studies show that the disease is much more prevalent in the Navajo regions and in people with Turkish origins

Testing/ Treatment

  • Specialists analyze a blood sample or buccal brush and look for abnormalities in the coding region of IL2RG
  • Once the baby is diagnosed they begin treatment
  • Treatment includes isolation, bone marrow transplants, and immunoglobulin replacement therapy
  • Bone marrow transplants are the most successful and effective treatment


David Vetter, also known as "The Boy in the Bubble". He lived in a plastic bubble from the time he was an infant to when he died in 1984 at the age of 12
  • Ten years after Vetter died, Warren Leonard discovered the source of X-linked Immunodeficiency
  • In 1993, Leonard published his findings in the Journal of Immunology.
  • He discovered that the gene that encodes the IL2-receptor y chain is in the same spot as the gene responsible for XSCID. This caused a nonsense mutation.
  • Right now, scientists are trying to figure out why gene therapy cures XSCID but causes Leukemia in patients
  • In a study, 1/4 of patients who were treated for XSCID with gammaretroviral vector gene therapy developed Leukemia


"Learning About Severe Combined Immunodeficiency (SCID)." National Human Genome Research Institute (NHGRI). National Institutes of Health, 2 June 2014. Web. 04 Feb. 2017.

Astaiza, Randy. "Curing The Disease That Trapped The Bubble Boy." Business Insider. Business Insider, 18 Sept. 2012. Web. 04 Feb. 2017.

Dalley, Drew. "New Gene Therapy Trials To Test Cure For Bubble Boy Syndrome." Singularity Hub. Singularity University, 28 July 2010. Web. 04 Feb. 2017

ThingLink. "Severe Combined Immunodeficiency Genetic Disorder by Marsela Leverone." ThingLink. ThingLink, 2015. Web. 04 Feb. 2017.

Berg, Leslie J. "The "Bubble Boy" Paradox: An Answer That Led to a Question." The "Bubble Boy" Paradox: An Answer That Led to a Question | The Journal of Immunology. American Association of Immunology, 2008. Web. 04 Feb. 2017.

Allenspach, Eric. "X-Linked Combined Immunodeficiency." National Center for Biotechnology Information, University of Washington, Seattle, 2016. GeneReviews, University of Washington, Seattle, www.ncbi.nlm.nih.gov. Accessed 4 Feb. 2017.

"Severe Combined Immunodeficiency." Baby's First Test, 2017, www.babysfirsttest.org. Accessed 4 Feb. 2017.

Van der Loo, J. "Critical Variables Affecting Clinical Grade Production of the Self-inactivating Gamma-retroviral vector for theTreatment of X-linked Severe Combined Immunodeficiency." Gene Therapy, EBSCO Industries, 2017, www.web.a.ebscohost.com. Accessed 4 Feb. 2017.

"X-linked SCID." Genetics Home Reference, U.S. National Library of Medicine, 2017, www.ghr.nlm.nih.gov. Accessed 4 Feb. 2017.

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