BACKGROUND Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. CASE PRESENTATION The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguine...

Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a chi...

Background: Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare, autosomal recessive, pleiotropic disease caused by mutations in the SMARCAL1 gene. SIOD characterized triad of symptoms, i.e., progressive kidney due to focal segmen- tal glomerulosclerosis (FSGS), spondyloepiphyseal and T-cell immunodeficiency. Additionally, heterogeneous neurological symptoms are often observed course...