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.