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BMBF-Network PID-NET: German Network for Primary Immunodeficiencies

  • Speaker: Prof. Dr. Christoph Klein
  • Affiliation: Children's clinic and children's policlinic in Dr. von Hauner'schen Kinderspital
  • Funding by BMBF: 2015 to 2018

Primary immunodeficiency diseases are congenital disorders of the immune system that are characterized not only by recurrent infections but also by predispositions to autoimmunity, allergies and cancer. The identification of the underlying genetic causes as well as the pathophysiological basis of these rare diseases is not only of great importance for the development of innovative gender-based therapeutic strategies, but is also fundamental for the understanding of many known immunological diseases.

The aim of the PID-NET is to understand the genetic causes and pathophysiological relationships of primary immunodeficiency diseases and to develop innovative gene based therapies. The focus is on severe combined immunodeficiency diseases, autoimmune lymphoproliferative diseases, autoinflammatory diseases and diseases of myeloid cell deficiency.

Functional immunological tests and faster genetic sequencing methods will be used to improve genotype-phenotype correlation studies. In patients with genetically unexplained diseases, the underlying mutations will be detected by clinical and immunological phenotyping. At the same time, a national platform for an innovative cellular model system based on induced pluripotent stem cell technology is being developed.

In summary, it can be said that PID-NET plays an essential role in the coordination of research into primary immunodeficiency diseases in Germany and is ultimately intended to help improve diagnostic and therapeutic options for patients with inherited rare immunodeficiency disorders. (Source: PID-NET)

Coordination centre for research networks on rare diseases

Rare diseases are not a rare phenomenon: Each individual disease affects less than five out of 10,000 people, but the total number of rare diseases is estimated at 7,000 to 8,000. Therefore, around four million people are affected in Germany alone. Since 2003, the BMBF has been funding research projects whose goal is to accelerate the diagnosis of rare diseases through basic and therapeutic research and to enable those affected to receive appropriate treatment quickly. The most modern technological methods are available to them. By networking and bringing together specialists to form these nationwide research alliances, the problem of the small number of patients can be tackled and the latest findings can be bundled and evaluated.

The BMBF-funded coordination centre for the research networks for rare diseases is also located at the Children's Hospital and the Children's Polyclinic in the Dr. von Hauner'schen Kinderspital .