Searchable abstracts of presentations at key conferences on calcified tissues
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European Calcified Tissue Society Congress 2014

Prague, Czech Republic
17 May 2014 - 20 May 2014

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European Calcified Tissue Society Annual Congress, 17 - 20 May 2014; Prague, Czech Republic



ba0003w6.3 | Osteoimmunology | ECTS2014

TRAP mutations and immunology

Briggs Tracey

Background: Biallelic pathogenic variants in ACP5, encoding tartrate-resistant acid phosphatase (TRAP), result in the immuno-osseous disorder spondyloenchondrodysplasia (SPENCD), characterized by metaphyseal dysplasia and a variety of autoimmune phenotypes, particularly systemic lupus erythematosus (SLE). Importantly, patients with SPENCD demonstrate an upregulation of type 1 interferon (IFN) stimulated genes (ISGs) similar to that observed in SLE. Since very little i...