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A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia

Clinical Genetics , Volume 63 (6) – Jun 1, 2003

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References (21)

Publisher
Wiley
Copyright
Blackwell Munksgaard, 2003
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1034/j.1399-0004.2003.00033.x
Publisher site
See Article on Publisher Site

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.

Journal

Clinical GeneticsWiley

Published: Jun 1, 2003

Keywords: combined immune deficiency; Crohn's disease; juvenile rheumatoid arthritis; plateyspondyly; spondylometaphyseal dysplasia

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