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Identifying and understanding rare immune system diseases

2001+

Challenge

Primary immune deficiency diseases (PIDDs) are rare, difficult-to-manage disorders caused by inherited defects in cells of the immune system Primary Immune Deficiency Diseases. They can result in increased risk of life-threatening infections, autoimmune diseases, and tumors Addressing Immune-Mediated Diseases Possible New Treatment for Severe Disease of the Blood Vessels. Understanding the molecular mechanisms underlying these immunodeficiencies is crucial to therapeutic decision-making and effective management of each disease.

Advance

For more than 30 years, IRP investigators at the National Institute of Allergy and Infectious Diseases (NIAID) have studied and developed new treatments for known PIDDs and worked to decipher immunodeficiencies of unknown etiology. In the last few years alone, IRP scientists identified:

  • NEMO immunodeficiency, which leads to frequent bacterial and viral infections and abnormal teeth, hair, skin, and nails
  • DOCK8 immunodeficiency, which can cause persistent skin infections, allergies, and cancer
  • XMEN disease, characterized by persistent Epstein-Barr virus infections and magnesium deficiency
  • PLAID, characterized by immune deficiency, autoimmunity, inflammatory skin disorders, and cold-induced hives

Impact

IRP researchers and their collaborators have made significant contributions to current understanding of PIDDs and to the treatment of patients affected by these devastating diseases. In 2007, NIAID opened a Primary Immune Deficiency Clinic at the NIH Clinical Center to provide a focus of IRP expertise for referring physicians and their patients. The clinic accepts patients with known or suspected PIDDs and offers treatment recommendations and, in some cases, a disease diagnosis.

Publications

Press Release – NIAID Initiative Addresses Primary Immune Deficiency Diseases: http://www.niaid.nih.gov/news/newsreleases/2003/Pages/pirc.aspx.

Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol. 2001 Mar;2(3):223-8.

Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009 Nov 19;361(21):2046-55.