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 > 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
Genetic Mucociliary Disorders
Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)View Disease Definition
Primary Immune Deficiency Disorders
Primary Immune Deficiency Treatment Consortium (PIDTC)View Disease Definition
C-SIDE: Conditioning SCID Infants Diagnosed Early
Seeks to improve the treatment, quality of life, and long-term outlook for children and adults living with hyper IgM.
Advocates for patients and carriers with chronic granulomatous disease (CGD).
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.
Funds research to find improved cures for Wiskott-Aldrich syndrome and supports families living with the disease around the world.
Increases awareness and provides support for those affected by severe combined immune deficiency (SCID).