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

1999; BMJ; Volume: 36; Issue: 10 Linguagem: Inglês

10.1136/jmg.36.10.786

1468-6244

Jorge Saraiva, Alexandra Dinis, Carlos Xavier Resende, Eduardo Petribu Faria, Carolina Cavaliéri Gomes, A. Jorge Correia, J Robles Gil, N. da Fonseca,

T-cell and B-cell Immunology

Immuno-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 features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.