JUVENILE RHEUMATOID ARTHRITIS-LIKE POLYARTHRITIS IN CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE ANOMALAD VELOCARDIOFACIAL SYNDROME CONOTRUNCAL ANOMALY FACE SYNDROME)

Objective. To investigate the association of polyarthritis and chromos ome 22q11.2 deletions. Methods. Eighty patients with chromosome 22q11. 2 deletion syndrome followed up at The Children's Hospital of Philadel phia 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 relati onship of their immunodeficiency to the polyarthritis. Results. The pr evalence 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 p atients with polyarthritis had evidence of impaired T cell function. T wo of the patients with polyarthritis also had IgA deficiency. Conclus ion. The chromosome 22q11.2 deletion syndrome represents a primary T c ell disorder which can be associated with a JRA-like polyarthritis. Al l 3 patients with polyarthritis had evidence of more extensive immunor egulatory derangements than those typically seen in patients with chro mosome 22q11.2 deletion, and these derangements may have predisposed t o the development of polyarthritis.