[CIS-PAGID] VDR mutations and Immune functions

[Church, Joseph]

Colleagues:

 

I have been asked to see a 2+yo with severe vitamin D resistant rickets
(VDRR) due to a novel homozygous mutation in his vitamin D receptor
(VDR) gene.  We have two additional VDRR patients.

 

Given the current interest in vitamin D, I wonder what the immunologic
impact of this finding might be.  The only clinical paper looking at
immune functions in VDRR I found was from 1989.  There are lots of
animal and epidemiologic studies, 

 

Has anyone studied these patients?

 

Is any one interested in studying these patients beyond routine
immunologic evaluations?

 

Your thoughts will be much appreciated.

 

Joe Church

Children's Hospital Los Angeles

 

 



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