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December 27, 2002


Question from Washington State, USA:

I have had diabetes since birth but was not diagnosed until I was seven years of age. I am now 35 years old, and my 14 year old son has a rare disease called IPEX. Does my type 1 diabetes play a role in my child having IPEX disease? Also, I have not taken care of my diabetes over a number of years and used drugs a lot in my earlier childhood and was wondering if that also could play a role in my son having IPEX disease. Honesty is the only answer I am willing to accept -- so if you can answer my questions please be as honest as you can.


IPEX is a very rare X linked autoimmune disorder which is described extensively in #304790 Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-linked; IPEX. It does not have the same underlying pathology as type 1A (autoimmune) diabetes. However, it is almost certain that you yourself are a carrier of the IPEX gene, and it therefore seems possible that your diabetes is much milder expression of this genetic disorder even though no female cases have been described.

Diabetes in IPEX is due to failure of islet cell development, and you would have had a negative antibody test at the time of diagnosis, although I very much doubt that such a test would have been done in your case.

If you want to pursue this further, you should talk to the genetic team who diagnosed your son. They might be interested in doing the necessary chromosomal analysis. You should also discuss the possibility of bone marrow transplantation for your son now that immunosuppression techniques can be much simpler.