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Clin Genet. 2003 Jun;63(6):522-9.

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

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  • 1Immunology and Allergy, Department of Paediatrics, Infection, Immunity, Injury and Repair Program, Research Institute, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.


We describe here four patients who appear to have similar clinical and immunological features which constitute a novel syndrome. The patients present with short stature owing to spondylometaphyseal dysplasia and with severe infections as the result of a combined humoral and cellular immune deficiency. Presumably because of dysregulation of the immune system, all patients also developed autoimmune manifestations.

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