Schimke immuno-osseous dysplasia

(redirected from immunoosseous dysplasia, Schimke type)

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.