Molecular immunological analysis of the pathogenesis of Wiskott Aldrich syndrome associated IgA nephropathy

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We evaluated the role of aberrant IgA production in the development of autoimmunity and glomerulonephritis in 26 patients with WAS. We found that serum galactose-deficient IgA levels and the levels of CIC containing IgA and IgG increased in WAS patients as an age dependent manner. Interestingly, these levels significantly increased in WAS patients with autoimmune manifestations. Furthermore, IgA-dominant immune deposits in the renal mesangium and glomerular injury in an XLT patient were significantly reduced after BMT. Galactose-deficient IgA levels were also markedly decreased after BMT. These findings indicate that mutations in WAS may be associated with aberrant IgA production and the development of autoimmune diseases including IgAN. Furthermore, immune reconstitution by BMT could correct aberrant IgA induced autoimmune diseases. These findings indicate that aberrant IgA production due to mutations in the WAS gene may be critically involved in the development of autoimmune diseases and glomerulonephritis.