A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia

Abstract

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.