hrp0084p3-663 | Bone | ESPE2015

Spondyloenchondrodysplasia with Immune Dysregulation and without Neurological Involvement: Report of Two Siblings with ACP5 Gene Mutation

Guven Ayla , Cebeci Ayse Nurcan , Crow Yanick

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...