Schimke immune-osseous dysplasia: case report and review of 25 patients

Immune-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease . We describe a patient with a severe form of the disease, review the featu res of another 24 patients, and discuss the previous classification. The di fferences between the two groups are not striking, and although similaritie s are greater between affected sibs, the same diagnosis of Schimke immune-o sseous dysplasia should apply to them all. The aetiology and physiopatholog y of this rare osteochondrodysplasia of presumed autosomal recessive inheri tance remain unknown.