PCMM | Genetics of Cancer and Immunodeficiency

Humans make more than one million different immune responses. This vast diversity is driven by the complex development of lymphocytes; the capacity to mount a specific immune response lasts a lifetime and requires complex signaling pathways and rearrangements of DNA.  Lymphocyte development can go awry due to more than 50 known genetic defects in the immune system.  The lifelong DNA rearrangements in lymphocytes are error prone and can lead to consequent formation of lymphoid cancers (lymphomas).

Immunodeficiency disease, often serious, can result when gene defects hinder lymphocyte regulation or operation.  Understanding how defective versions of these genes lead to rare immunodeficiency diseases will enhance our understanding of the roles these genes normally play in the immune system.

Immunodeficiency investigators at the PCMM are pursuing this fundamental scientific challenge:

Discovery of the products of defective genes and their effects on the immune system 
Investigators in the genetics concentration have defined the following challenges:
  • Modeling the basis of immunological diversity
  • Developing mouse models for various types of lymphoma generation and development of other cancers
  • Mouse modeling for development and physiology of the immune system
  • Mouse modeling of tolerance related to autoimmunity

PCMM Scientists studying genetics of cancer and immunodeficiency


Frederick Alt

Eileen Remold-O'Donnell