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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.
Clinical Genetics – Wiley
Published: Jun 1, 2003
Keywords: combined immune deficiency; Crohn's disease; juvenile rheumatoid arthritis; plateyspondyly; spondylometaphyseal dysplasia
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