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NIAID Initiative Addresses Primary Immune Deficiency Diseases

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www.ProHealth.com • October 3, 2003


The study of primary immunodeficiency diseases--disorders caused by inherited flaws in the immune system that increase susceptibility to infections--has been bolstered by a $12.8 million initiative sponsored by the National Institutes of Health (NIH). The initiative establishes the Primary Immunodeficiency Research Consortium (PIRC), a coalition of the world's most prominent researchers in the field of primary immunodeficiency diseases, to help prioritize and coordinate research directions and develop new resources for the study of these comparatively rare disorders.

The initiative is co-sponsored by the National Institute of Allergy and Infectious Diseases (NIAID) and the National Institute of Child Health and Human Development. It is an outcome of a 2001 NIH advisory panel's recommendations to accelerate basic and clinical research in primary immunodeficiency diseases and to attract new investigators to the field.

"Until now, a relative scarcity of study subjects has limited a researcher's options for investigating these lesser known diseases," says Anthony S. Fauci, M.D., director of the NIAID. "The consortium will help advance our understanding by focusing research priorities, uniting established researchers with new investigators, funding small-scale clinical and preclinical projects, and creating or expanding research resources, including a cell line repository and Web-based patient registry to which all researchers will have access."

The registry will build upon a 1998 NIAID-funded registry of the Immune Deficiency Foundation that includes clinical information on individuals with eight primary immunodeficiency diseases. The registry will be accessible to researchers at a secure Web site that protects the privacy of those who are registered. The repository will include DNA from individuals included in the registry for use by investigators on approved research studies.

Unlike secondary or acquired immune deficiency diseases, which are caused by infectious, chemical or radiological agents, the estimated 80 primary immunodeficiency diseases are inherited conditions in which specific cells of the immune system do not function properly.

Clinical symptoms range from mild or nonexistent, as in the case of selective IgA deficiency, to severe, as in the case of severe combined immunodeficiency (SCID), commonly referred to as "bubble-boy" syndrome. Although susceptibility to infections is a major consequence of the primary immunodeficiency diseases, they may cause other health problems as well, including allergies, asthma, swollen joints, digestive tract problems, growth problems or an enlarged liver and spleen. Approximately 25,000 to 50,000 Americans are severely affected.

The PIRC consists of a steering committee of researchers renowned for their seminal contributions to the field. The steering committee will identify research needs, mechanisms to foster research and methods to encourage new investigators to enter the field. A peer-review advisory panel will evaluate research proposals and make funding recommendations to the steering committee.

Members of the steering committee include


Hans Ochs, M.D., Principal Investigator--University of Washington, Seattle, WA
Rebecca Buckley, M.D.--Duke University Medical Center, Durham, NC
Mary Ellen Conley, M.D.--St. Jude Children's Research Hospital, Memphis, TN
Charlotte Cunningham-Rundles, M.D., Ph.D.--Mount Sinai Medical Center, New York, NY
Alain Fischer, M.D., Ph.D.--Hopital Necker-Enfants Malades, Paris, France
Jennifer M. Puck, M.D.--National Human Genome Research Institute, NIH, Bethesda, MD
E. Richard Stiehm, M.D.--Mattel Children's Hospital at UCLA, Los Angeles, CA

NIAID is a component of the National Institutes of Health (NIH), which is an agency of the Department of Health and Human Services.

NIAID supports research to advance the understanding of transplantation and to prevent, diagnose and treat infectious and immune-mediated illnesses, including HIV/AIDS and other sexually transmitted diseases, illness from potential agents of bioterrorism, tuberculosis, malaria, autoimmune disorders, asthma and allergies.



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