Laboratory Diagnosis and Immunologic Characterization of Heritable Immune Disorders - a Pan American Consensus Conference: Sharing Resources, Sharing Knowledge This is planned as a 2 day interactive conference to be held November 8 and 9, 2008. Major academic centers with strengths in diagnosis and treatment of heritable immunodeficiencies (often termed Primary Immunodeficiency Disorders, or PIDDs) will be represented. If funding permits, at least two individuals from each North American center will be invited: e.g. a senior scientist and a junior faculty member, or a clinician and a laboratory scientist: e.g. an """"""""expert"""""""" and a next generation """"""""expert"""""""". All academic participants including members of working groups, moderators and speakers will be invited and their travel expenses will be provided. The majority of participants will be from U.S. and Canada, with a handful of invitees from Latin America and Europe if funding from non-NIH sources permits. A few scientists representing relevant corporate organizations in the U.S. may attend at their own expense. Topics to be discussed will cover : 1) an overview of clinical laboratory based testing, including genetic testing, available in North America for PIDDs, 2) review of existing and emerging rapid and cost effective strategies for definitive diagnosis of PIDDs, 3) identification of new and emerging diagnostic tools and how to move them into clinical medicine 4) development of paradigms for accurate diagnosis and management of different categories of PIDDs, 5) optimization of (existing) networks of professionals with an interest in PIDDs. Conference proceedings, including discussion, will be videotaped to assist preparation of consensus documents. We plan to publish these in peer-reviewed journals, and have initiated discussions to that end. Furthermore, if practical and affordable, an electronic compendium of resources for diagnosis of PIDD in North America, will be developed and regularly curated, perhaps under the auspices of PAGID (Pan American Group for Immunodeficiencies). The more than 100 primary immunodeficiency disorders (PIDDs), while individually rare, as a group represent a significant burden on the health care system due to the complexity and cost of managing children and adults with such disorders. It is also clear that there are many individuals affected by so-called emerging PIDDs for which robust diagnostic tools are not yet widely available, and the natural history is poorly understood. Most of the PIDDs are prematurely lethal and a significant number can only be """"""""cured"""""""" by hematopoietic cell transplantation. Since better outcomes with all treatments hinge on early and correct diagnoses, access to state of the art laboratory tools and the best """"""""expert"""""""" interpretation of results is central to improving outcomes for patients with PIDDs.
The more than 100 primary immunodeficiency disorders (PIDDs), while individually rare, as a group represent a significant burden on the health care system due to the complexity and cost of managing children and adults with such disorders. It is also clear that there are many individuals affected by so-called emerging PIDDs for which robust diagnostic tools are not yet widely available, and the natural history is poorly understood. Most of the PIDDs are prematurely lethal and a significant number can only be cured by hematopoietic cell transplantation. Since better outcomes with all treatments hinge on early and correct diagnoses, access to state of the art laboratory tools and the best expert interpretation of results is central to improving outcomes for patients with PIDDs.
