Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Severe Combined Immunodeficiency

Severe Combined Immunodeficiency (SCID)

Alternative Names: Bubble Boy Syndrome

Disease Category: Primary Immune Deficiency Disorders

A severe form of primary immune deficiency characterized by extreme weakness or absence of immune system function, manifesting at birth. A dysfunctional immune system is unable to properly defend the body from bacteria, fungi, or viruses, resulting in recurrent, persistent, sometimes life-threatening infections. Common symptoms include chronic diarrhea, failure to thrive (feeding or growth problems), weakness, pneumonia, skin rashes, and oral thrush (a fungal mouth infection).

Research groups studying this disease

Primary Immune Deficiency Disorders
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Primary Immune Deficiency Treatment Consortium (PIDTC)

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Improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency.

Works to improve treatment, diagnosis, and find a cure for primary immunodeficiency through research, education, support, advocacy, awareness, and newborn screening.

Increases awareness and provides support for those affected by severe combined immune deficiency (SCID).