Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Genet. 2003 Jun;63(6):522-9.

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

Author information

  • 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. chaim.roifman@sickkids.ca

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.

PMID:
12786759
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk