IPEX Syndrome

 

 

IPEX syndrome - Patients develop intractable chronic diarrhea secondary to autoimmune small bowel inflammation (the colon can also be affected).  Additional key features of this disease include endocrinopathies (type I diabetes and thyroid disease), atopic dermatitis and autoimmune cytopenias.   

 

IPEX is caused by mutations in the FOXP3 gene.  Foxp3 is a master transcription factor responsible for the development and function of T regulatory cells (Tregs).  Tregs function to suppress peripheral autoreactive T cells through a contact-dependent and cytokine-mediated mechanism.  Treg dysfunction leads to loss of peripheral tolerance and activation of self-reactive lymphocytes which cause autoimmune disease.  

 

 

IPEX Syndrome