Spondyloenchondrodysplasia with immune dysregulation: Report of a novel ACP-5 gene missense mutation and use of sirolimus.

Spondyloenchondrodysplasia with immune dysregulation(SPENCDI) is a rare genetic disorder resulting from suboptimal Tartrate Resistant Acid Phosphatase (TRAP) activity which key regulates functioning of immune effector cells and osteoclasts. This leads to autoimmune cytopenias along with skeletal system and neurological manifestations. Refractory autoimmune haemolysis is frequently encountered and manifest at a younger age demanding attention of a paediatric haematologist. Here we report the typical evolution of multi-systemic symptoms in a 7 year old child and difficult to manage haemolysis with use of sirolimus for attaining clinical remission.