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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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 > Primary immune deficiency disorders

Primary immune deficiency disorders (PID)

Disease Category: Primary Immune Deficiency Disorders

A term describing a group of over 400 rare, chronic disorders of varying severities, caused by inherited genetic defects. They are all characterized by weakened or absent immune systems that cannot properly protect the body from viruses, fungi, or bacteria. This results in recurrent, persistent, sometimes life-threatening infections. Common symptoms include pneumonia, bronchitis, meningitis, chronic diarrhea, skin rashes, oral thrush (a fungal mouth infection), and frequent infections of the sinuses and ears.

Research groups studying this disease