The authors studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Haplotype data indicated the disease gene to be on chromosome 19p13, and linkage analysis yielded a combined multipoint log10 odds (LOD) score of 3.6. Sequencing of ACP5, encoding tartrate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in vivo testing confirmed a loss of expressed protein. In eight cases assayed there was elevated serum interferon alpha activity in whole blood. These findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism.
Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, et al
Nat Genet. 2011 Feb;43(2):127-31. Epub 2011 Jan 9.