Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).
To investigate the association of polyarthritis and chromosome 22q11.2 deletions.
Eighty patients with chromosome 22q11.2 deletion syndrome followed up at The Children's Hospital of Philadelphia were examined for evidence of arthropathy or arthritis.
Patients with chromosome 22q11.2 deletion syndrome and polyarthritis underwent laboratory evaluations of immunologic function to determine the relationship of their immunodeficiency to the polyarthritis.
The prevalence of polyarthritis in patients with chromosome 22q11.2 deletion syndrome was markedly increased over the prevalence of polyarticular juvenile rheumatoid arthritis (JRA) in the general population.
All 3 patients with polyarthritis had evidence of impaired T cell function.
Two of the patients with polyarthritis also had IgA deficiency.
The chromosome 22q11.2 deletion syndrome represents a primary T cell disorder which can be associated with a JRA-like polyarthritis.
All 3 patients with polyarthritis had evidence of more extensive immunoregulatory derangements than those typically seen in patients with chromosome 22q11.2 deletion, and these derangements may have predisposed to the development of polyarthritis.
Mots-clés Pascal : Immunodéficit héréditaire DiGeorge, Enfant, Homme, Symptomatologie, Polyarthrite, Délétion, Chromosome, Epidémiologie, Analyse corrélation, Système HLA, Arthrite chronique juvénile, Prévalence, Chronique, Immunopathologie, Maladie héréditaire, Immunoglobulinopathie, Système ostéoarticulaire pathologie, Rhumatisme inflammatoire
Mots-clés Pascal anglais : DiGeorge syndrome, Child, Human, Symptomatology, Polyarthritis, Deletion, Chromosome, Epidemiology, Correlation analysis, HLA-System, Juvenile rheumatoid arthritis, Prevalence, Chronic, Immunopathology, Genetic disease, Immunoglobulinopathy, Diseases of the osteoarticular system, Inflammatory joint disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0233779
Code Inist : 002B06D01. Création : 11/06/1997.