A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia

C M Roifman; I Melamed

doi:10.1034/j.1399-0004.2003.00033.x

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia

Clin Genet. 2003 Jun;63(6):522-9. doi: 10.1034/j.1399-0004.2003.00033.x.

Authors

C M Roifman¹, I Melamed

Affiliation

¹ Immunology 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. [email protected]

PMID: 12786759
DOI: 10.1034/j.1399-0004.2003.00033.x

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Autoimmune Diseases / genetics
Autoimmune Diseases / physiopathology*
Bone Diseases, Developmental / diagnostic imaging
Bone Diseases, Developmental / genetics
Bone Diseases, Developmental / physiopathology*
Child
Child, Preschool
Communicable Diseases / immunology
Communicable Diseases / physiopathology
Female
Humans
Immunologic Deficiency Syndromes / genetics
Immunologic Deficiency Syndromes / physiopathology*
Male
Radiography