Severe Combined Immune Deficiency Fact Sheet

CIRM funds many projects seeking to better understand the origins of SCID (severe combined immune deficiency, or "Bubble boy disease") and to translate those discoveries into new therapies.

If you want to learn more about CIRM funding decisions or make a comment directly to our board, join us at a public meeting. You can find agendas for upcoming public meetings on our meetings page.

Learn more about stem cell research:
Stem Cell Basics Primer | Stem Cell Videos | What We Fund

Find clinical trials:
CIRM does not track stem cell clinical trials. If you or a family member is interested in participating in a clinical trial, please see the national trial database to find a trial near you: clinicaltrials.gov

Stem cell research for SCID

SCID – also known as ‘bubble boy disease’ - is a rare genetic disorder, effecting one in 30,000 newborns. Left untreated the children die before the age of 2, and the only readily available treatment involves high-risk bone marrow transplants. Because these patients already have a compromised immune system, 10 to 20 percent don’t survive the transplant.

Gene therapy has been used to correct the defect in certain types of SCID, but early gene modifying techniques resulted in some patients developing cancer. Newer gene therapy techniques appear to be safer but have been tried on fewer than 20 patients.

Researchers funded by California’s stem cell agency are looking for a better alternative to help these children. They are trying to improve the safety of bone marrow transplant (BMT), which essentially uses the stem cells in bone marrow to give the children a new immune system that works properly. Most of the risk of current BMT procedures comes from the radiation or chemotherapy given to patients before the transplant to wipe out the patient’s own stem cells that form immune cells. These regimens kill many types of cells beyond those intended and result in numerous toxic side effects.

Disease team award

Stanford School of Medicine

This team proposes to replace SCID patients’ dysfunctional immune cells with healthy ones using a safer form of bone marrow transplant (BMT). They plan to eliminate the bad cells with an antibody, a protein, that very specifically targets and eliminates blood forming stem cells. If successful, the procedure could open up similar BMT therapies to patients with other auto-immune diseases such as multiple sclerosis, lups or diabetes that are generally not candidates for BMT currently. These diseases, while debilitating, are not immediately life-threatening and generally don’t warrant the risks involved in BMT the way it is done today.

• Read more about this project

CIRM Grants Targeting Immune Diseases including SCID

Researcher name	Institution	Grant Title	Funding
Judith Shizuru	Stanford University	A monoclonal antibody that depletes blood stem cells and enables chemotherapy free transplants	$20,000,000
Yang Xu	University of California, San Diego	Induction of immune tolerance to human embryonic stem cell-derived allografts	$1,193,292
Husein Hadeiba	Palo Alto Institute for Research and Education, Inc.	Application of Tolerogenic Dendritic Cells for Hematopoietic Stem Cell Transplantation	$885,475
Gay Crooks	University of California, Los Angeles	Engineering Thymic Regeneration to Induce Tolerance	$1,357,398
Jeanne Loring	Scripps Research Institute	Thymus based tolerance to stem cell therapies	$1,269,844
Michele Calos	Stanford University	Safe, efficient creation of human induced pluripotent stem cells without the use of retroviruses	$1,406,875
Kenneth Weinberg	Stanford University	Embryonic stem cell-derived thymic epithelial cells	$658,057
Morton Cowan	University of California, San Francisco	Gene Correction of Autologous Hematopoietic Stem Cells in Artemis Deficient SCID	$3,931,662
Judith Shizuru	Stanford University	A monoclonal antibody that depletes blood stem cells and enables chemotherapy free transplants	$109,676
			Total: $30,812,279.00