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

• Auteurs principaux: Jakub Zieg (Auteur), Martin Bezdíčka (Auteur), Michaela Němčíková (Auteur), Miroslava Balaščáková (Auteur), Martina Suková (Auteur), Katalin Štěrbová (Auteur), Karel Vondrák (Auteur), Jiří Dušek (Auteur), Anna Křepelová (Auteur)
• Format: Livre
• Publié: BMC, 2023-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...