Towards the early diagnosis of primary immunodeficiencies

Core for Homeostatic Regulation,Core for Precise Measuring and Modeling,Program for Medical Innovations

RIKEN Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies

Primary Immunodeficiency Deficiencies (PID) syndromes cause disorders in immune functions due to congenital abnormalities, making these patients very susceptible to infection by pathogens such as bacteria, viruses, and fungi. These are extremely serious disorders, which at times are accompanied by malignant tumors at a young age, autoimmune diseases, and allergies. It is estimated that about 10,000 people in Japan suffer from these syndromes. At present more than 150 causative PID genes have been identified, but there are many forms of PID for which the genetic defect has not yet been determined. In cases where the causative gene has been identified, treatments such as haematopoietic stem cell transplants and gene-repair therapy may be administered, resulting in the potential to cure some of these disorders. However, because there is often a delay in diagnosis, there are many cases where patients become afflicted with serious infectious diseases and die as a result. Particularly in cases where the causative gene has not been identified, diagnosis and adequate treatment methods have not been established.

In an effort to elucidate the pathogenesis of PIDs and establish methods of early diagnosis and find effective treatments, RIKEN IMS (formerly named RCAI) formed a collaboration with 13 universities/colleges in Japan which belong to the research team for Investigative Research on Primary Immunodeficiency Disease Syndrome*, ("Ministry of Health, Labour and Welfare Survey Research Team"). IMS and this team, in cooperation with KDRI, have been promoting the immunological analyses and identification of causative genes in anonymized PID patients. Through this collaboration, IMS accepts the DNA of patients suffering from PID, performing genetic analyses and building a database containing the analytical results.

The work of the IMS to date has been highly regarded by the Jeffrey Modell Foundation (JMF), an American NPO established in 1987 to prevent PID and to promote its diagnosis and treatment throughout the world. A decision was by made by RIKEN and JMF to jointly engage in a project to build a diagnostic research and clinical data platform. The RIKEN Jeffrey Modell Immunodeficiency Research Center, located within IMS’s research building in Tsurumi, Yokohama, built a PID clinical archive, PIDJ (Primary Immunodeficiencies Database Japan) with the support of IMS scientists, clinicians, and KDRI. The database currently contains more than 1500 clinical data collected from all over Japan, and also integrates the basic analytical data including immunological and DNA / RNA analyses performed by the RIKEN Jeffrey Modell Immunodeficiency Research Center. This informational platform provides an accurate PID diagnosis framework and promotes research, including the development of new diagnostic and therapeutic methods, which can then contribute to PID patients, their families and physicians.
The RIKEN Jeffrey Modell Immunodeficiency Research Center continues to strengthen the cooperation among clinicians, researchers and other Jeffrey Modell Diagnostic Centers worldwide, and to promote basic research into the treatment of PID, as well as increasing our understanding of the development and function of the human immune system.

*Investigative research team for Investigative Research on Primary Immunodeficiency Disease Syndrome, a research program of the Ministry of Health, Labour and Welfare for overcoming intractable disease: At present, the following 13 universities/colleges are participating as members of the research investigation group: University of Miyazaki, Gifu University, Nagoya University, Kyushu University, Hiroshima University, Kanazawa University, University of Toyama, Tokyo Medical & Dental University, Tohoku University, Hokkaido University, Kyoto University, Shinshu University, National Defense Medical College.



Photo: Opening of RIKEN-Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies. From left, back row: Masaru Taniguchi (Director, RCAI), Peter Turner (President, CSL Behring LLC), Shigeaki Nonoyama (Professor, National Defense Medical College), and Michio Oishi (Director, KDRI); front row: Fred Modell (Founder, JMF), Ryoji Noyori (President, RIKEN), and Vicki Modell (Founder, JMF).


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