Request for Information (RFI): Registry and Repository for Primary Immunodeficiency Diseases

Notice Number: NOT-AI-07-047

Key Dates
Release Date:  September 25, 2007
Response Date:  November 30, 2007

Issued by
National Institutes of Allergy and Infectious Diseases (NIAID), (


Primary Immunodeficiency diseases result from inherited defects in the immune system.  More than 150 primary immunodeficiency diseases and 120 different genes causing these diseases have been identified.  While individual primary immunodeficiency diseases are rare, as a group they may affect 1-2% of the population. Primary immunodeficiency diseases provide an excellent window into the functioning of the immune system.

In its 1999 report, “International Benchmarking of U.S. Immunology Research,” the Institute of Medicine concluded that the United States is the preeminent leader in most areas of immunology research, but has not achieved a level of preeminence in primary immunodeficiency disease research. To address this conclusion, the NIAID, in collaboration with the National Cancer Institute (NCI) and National Institute of Child Health and Human Development (NICHD), convened a Primary Immunodeficiency Disease Advisory Panel, in September 2001, to identify impediments to investigators, gaps in knowledge that should be addressed, areas of research emphasis, and scientific opportunities. The Panel was also charged with making recommendations for approaches that the National Institutes of Health (NIH) might initiate to overcome obstacles, accelerate basic and clinical research in primary immunodeficiency diseases, and encourage the entry of new investigators into the field.

The advisory panel also made recommendations concerning the existing NIAID-funded Primary Immunodeficiency Disease Registry, which was established by a contract initially awarded in 1992 to the Immune Deficiency Foundation and renewed in 1998. The registry collects information on the natural course of the disease, including early and late complications, efficacy of therapy, and causes of death in U.S. patients affected by primary immunodeficiency diseases.
The advisory panel concluded that: (1) Registries for rare diseases are essential for compiling clinical information and developing accurate estimates of prevalence; (2) Registries serve to unify communities of investigators through opportunities for collaborations and identification of potential research subjects for clinical and pre-clinical study referrals; and (3) placing the Registry under a network of primary immunodeficiency disease investigators, coupled with the ability to fund primary immunodeficiency disease-related small or pilot studies, will greatly enhance Registry utilization and value.

The Primary Immunodeficiency Research Consortium, co-sponsored by the National Institute of Child Health and Development, was established in 2003 and is currently under a contract to USIDnet  The current contract terminates in September 2008.

The goals of this consortium are to: 

  1. develop a portfolio of basic and preclinical research projects,
  2. create an educational and mentoring program in primary immunodeficiency diseases,
  3. maintain and modify the existing registry for primary immunodeficiency diseases, and
  4. create a repository for PID samples.

The consortium has solicited and reviewed proposals for more than 100 research projects. Funding has been provided for 28 research projects. Some of the funded projects have resulted in fundable NIH grant applications.

The registry has been reconfigured with a web-based interface and a data structure similar to the European Society of Immunodeficiencies registry that includes information on approximately 1800 individuals with 8 PIDs, including the following: 

A repository of DNA and cell lines from individuals with primary immunodeficiency diseases has been developed and currently has more than 30 cell lines available for investigators at a nominal cost.

Information Requested

NIAID has decided to continue the work currently being performed under the contract to USIDnet beyond September 2008.  Funding opportunities for “Exploratory/Developmental Investigations on Primary Immunodeficiency Diseases” have recently been published in the NIH Guide for Grants and Contracts. (See PAR-07-446 (R21) and PAR-07-447 (R03))

NIAID intends to continue to support the PID registry and repository resource for investigators studying PIDs and other areas of immunology.  

Information in the following areas will help NIAID define a registry and repository that will best serve the needs of the scientific community.  Interested individuals and organizations are invited to submit information on any or all of the following topics: 

Response will be accepted until November 30, 2007.  Responses should be limited to 10 pages and marked with this RFI identifier NOT-AI-07-047.  Responses are preferred in electronic format and can be e-mailed to or can be mailed to the contact noted below.

The collected information will be analyzed, but the results will not be made available to the public. Responses will be held in a confidential manner. Any proprietary information should be so marked.

Respondents will receive an email confirmation acknowledging receipt of their response, but will not receive individualized feedback.


Inquiries regarding this notice may be directed to:

Josiah Wedgwood M.D., Ph.D.
Section Chief
Division of Allergy, Immunology and Transplantation, NIAID, NIH, DHHS
National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive, Room 3019
Bethesda, MD 20892-6601 (use 20817 for express mail)
Telephone: 301-435-4418
Fax: 301-480-1450


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