TY - JOUR T1 - Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome. JF - The Journal of Rheumatology JO - J Rheumatol SP - 2326 LP - 2334 VL - 28 IS - 10 AU - K Davies AU - E R Stiehm AU - P Woo AU - K J Murray Y1 - 2001/10/01 UR - http://www.jrheum.org/content/28/10/2326.abstract N2 - Five patients with the 22q11 deletion syndrome (velocardiofacial syndrome) developed chronic inflammatory polyarticular arthritis. These new cases add to 8 previously reported and confirm the association. The arthritis in all cases was moderate to severe, but at least partially responsive to methotrexate and/or corticosteroids, and was clinically indistinguishable from juvenile idiopathic arthritis (JIA). Analysis of the total 13 patients indicates that 2 are rheumatoid factor positive, 6 are antinuclear antibody positive, 5 have subtle T cell deficiencies, and 6 have hypergammaglobulinemia. Of particular interest is the occurrence of IgA deficiency in 4 patients, including 2 from our own series. Although IgA deficiency is seen in both JIA (2-4%) and 22q11 deletion syndrome (2-4%), the prevalence of low IgA in this series (31%) is much greater than expected. This phenomenon and the true association of inflammatory arthritis and a chromosome deletion disorder provides further evidence of important genetic factors in the pathogenesis of JIA. ER -