A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses
September 2014
in “
Bone
”
TLDR A vitamin D receptor mutation causes rickets and affects immune responses.
The study characterized two siblings with Hereditary Vitamin D Resistant Rickets (HVDRR) due to a homozygous mutation in the DNA binding domain of the vitamin D receptor (VDR), leading to resistance to 1,25-dihydroxyvitamin D. Despite severe rickets, alopecia, and elevated serum levels of 1,25-(OH)2D3, the siblings showed no history of chronic inflammatory diseases, questioning the essential role of vitamin D in the immune system. The boy recovered from rickets by age 17 without medication, but close monitoring for potential recurrence of vitamin D dependency or inflammation was recommended.