BACKGROUND: Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this disease. CASE PRESENTATION: We aimed to characterize the clinical, pathological and genetic features of SIOD patients received at tertiary Pediatric Nephrology Center, University Hospital Motol, Prague, Czech Republic during the period 2001-2021. The mean age at diagnosis was 21 months (range 18-48 months). All patients presented with growth failure, nephropathy and immunodeficiency. Infections and neurologic complications were present in most of the affected children during the course of the disease. CONCLUSIONS: Although SIOD is a disease characterized by specific features, the individual phenotype may differ. Neurologic signs can severely affect the quality of life; the view on the management of SIOD is not uniform. Currently, new therapeutic methods are required.

Department of Biology and Medical Genetics University Hospital Motol 2nd Medical Faculty Charles University Prague Czech Republic

Department of Pediatric Hematology and Oncology University Hospital Motol 2nd Medical Faculty Charles University Prague Czech Republic

Department of Pediatric Neurology University Hospital Motol 2nd Medical Faculty Charles University Prague Czech Republic

Department of Pediatrics University Hospital Motol 2nd Medical Faculty Charles University 5 Úvalu 84 15006 Praha 5 Prague Czech Republic

Vera Vavrova Lab VIAL University Hospital Motol 2nd Medical Faculty Charles University Prague Czech Republic

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Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia