A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses

    September 2014 in “ Bone ”
    Bram C. J. van der Eerden, Josine C. van der Heyden, Jan Piet van Hamburg, Marijke Schreuders‐Koedam, Patrick S. Asmawidjaja, S M de Muinck Keizer-Schrama, Annemieke M. Boot, Erik Lubberts, Stenvert L. S. Drop, Johannes P.T.M. van Leeuwen
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    Studysummary This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D. Our plain-language summary of this paper — not a Tressless recommendation.
    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.
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