need additional cases of Blau syndrome

Thu May 20 18:59:19 EST 1993

Organization: Temple University
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Hello to everyone on the net!
I am in the midst of a linkage analysis to try and find the chromosomal
location of the gene(s) involved in Blau syndrome - familial granulomatous
arthritis, uveitis and rash - the only example in humans of an
autoimmune disease inherited in an autosomal dominant manner.  As such, we
believe it represents a unique opportunity to define the molecular events that
initiate arthritis and uveitis in man.
Anyone who knows of additional cases (individuals or families) or would be
interested in helping me work out the immunobiological mechanisms involved in
the granulomatous inflammation in this situation is encouraged to contact me.

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