SMARCAL1 and Schimke immuno-osseous dysplasia: Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive inherited disease in which the SMARCAL1 gene is mutated on chromosome 2; SIOD is mainly characterized by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal dysfunction [1].