Schimke immuno-osseous dysplasia


Also found in: Encyclopedia.

Schimke immuno-osseous dysplasia

An autosomal recessive condition (OMIM:242900) characterised by spondyloepiphyseal dysplasia with growth retardation, renal failure, T-cell immunodeficiency and recurrent infections, skin pigmentation beginning in childhood and, in about half of patients, hyperthyroidism; about half have episodic cerebral ischaemia with infarcts.

Molecular pathology
Defects of SMARCAL1, which encodes a protein with helicase and ATPase activities that regulates gene transcription, cause Schimke immuno-osseous dysplasia.
References in periodicals archive ?
In Schimke immuno-osseous dysplasia, the disease is due to ESRD, recurrent infections and cerebrovascular complications.
Schimke immuno-osseous dysplasia: case report and review of 25 patients.
(6.) Dekel B, Metsuyanim S, Goldstein N, Pode-Shakked N, Kovalski Y, Cohen Y Davidovits M, Anikster Y Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.