Hi friends!
Im looking for some support. Dr. Shen says I have Blaus which he tested me I was in cleveland
Does anyone else have this??? I have no symptoms. He called a genetics specialist who told him what to order test wise. I have the Igg4 anomaly, too

I am the President and Founder for StopCAIDnow,Inc
My son Brody who is 2yrs old has Blau, I started a Foundation for all childhood autoinflammatory diseases www.stopcaidnow.com facebook stopcaidnow and stopcaidnowInternational
we have a race in Sweden for Blau/stopcaidnow in a week. I live in PA and also see Dr at the Cleveland Clinic for my son.
Contact me if you wish, Stopcaidnow@aol.com
Lis

He is looking for card 15 NOD2 mutations? Do you have noncaseating granulomas?

I have the mutations of NOD2/CARD15 but no symptoms at all. (that I am aware of)

This is a rare granulomatous disorder. Honestly I had never even heard of it. I was seeing Dr. Shen for pouchitis and this was revealed.

Ok so here is what i have learned. Blau's syndrome is a genetic mutation on the NOD2/CARD15 gene. It is the same place as the mutation for Crohns Disease apparently. The idea is that people with pouchitis might have some kind of mutation of this gene. Not all people but some and those who do will have a more complex course. These diseases are not separate and distinct but part of a spectrum of GI disorderes. Comments PLEASE!

Katenet,

With regard to your NOD2/CARD15 test. Was Dr Shen the one the tested you for it? Did he test you for it because you have chronic pouchitis or more some other reason? It is my understanding that almost all chronic pouchtis cases have the mutation of this gene.