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Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2022

Castellano-Martinez Ana, Acuñas-Soto Silvia, Varga-Martinez Raquel De la, Rodriguez-Gonzalez Moises, Mora-Lopez Francisco, Iriarte-Gahete Marianela, Roldan-Cano Virginia

Abstract excerpt

BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a very rare autosomal recessive genetic disease caused by mutations in the SMARCAL1 gene. It is characterized by spondyloepiphyseal dysplasia, T-cell immunodeficiency, hypercromic nevi, hypercholestero-lemia, and steroid-resistant nephrotic syndrome with progressive renal failure to end-stage kidney disease. CASE PRESENTATION: We report two cases of SIOD in...

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PMID: 35209826
DOI: 10.2174/1871530322666220223154028

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