Schimke Immunoosseous dysplasia
Immunoosseous dysplasia of the Schimke type is an autosomal recessive disorder characterized by skeletal abnormalities, T-cell defects, and nephrotic type progressive nephritis. Mutations of the SMARCAL1 gene are responsible for the disease.
The disease was first described, when Schimke in 1971 published a case report.[Error: Macro 'ref' doesn't exist]
Schimke immunoosseous dysplasia (SIOD) is characterized by bone abnormalities, nephrotic syndrome, and T-cell deficiency. The disproportionate short stature is the result of spondyloepiphyseal dysplasia. Other radiological findings are ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae.
The patient are diagnosed with steroid resistant nephrotic syndrome within 5 years after growth retardation becomes obvious. Renal injury develops into end stage renal failure.
Boerkoel CF et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.[^]
Taha D et al. (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.[^]
Clewing JM et al. (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation.[^]
Clewing JM et al. (2007) Schimke immunoosseous dysplasia: suggestions of genetic diversity.[^]
Spranger J et al. (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.[^]
Schimke RN et al. (1971) Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.[^]
OMIM.ORG articleOmim 242900 [^]