Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

• Main Authors: Jakub Zieg (Author), Martin Bezdíčka (Author), Michaela Němčíková (Author), Miroslava Balaščáková (Author), Martina Suková (Author), Katalin Štěrbová (Author), Karel Vondrák (Author), Jiří Dušek (Author), Anna Křepelová (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...