FROM PRE TO POST-BMT: AUTOIMMUNITY AND VASCULITIS IN WISKOTT-ALDRICH SYNDROME. (February 2015)

• Record Type: Journal Article
• Authors: Loke, Paxton; Cole, Theresa; Choo, Sharon
• Is Part Of: Pathology. Volume 47(2015)Supplement 1
• Publication Date: 2015-02
• Subjects: Pathology -- Periodicals; 616.0705
• DOI: 10.1097/01.PAT.0000461428.89745.79
• Languages: English
• ISSNs: 0031-3025

Abstract

Abstract : Background: Wiskott-Aldrich Syndrome (WAS) is an X-linked primary immunodeficiency associated with recurrent infections, eczema, and small platelets. Patients are at risk of autoimmune complications which represent a more severe form of the WAS disease spectrum. Case history: We described a 4-year-old boy who was diagnosed with WAS, in the context of mucosal bleeding and severe thrombocytopenia. The thrombocytopenia did not respond to intravenous immunoglobulins and steroids. Several months post-diagnosis, he developed left lower lobe pneumococcal pneumonia, arthritis and a vasculitic rash which was leukocytoclastic on histology. This was followed by a rise in his IgG levels (peaking at 46 g/L), abnormal liver function tests which were predominantly cholestatic, and persistently low C4 levels. Liver biopsy showed vasculitis and autoimmune cholangitis. His anti-C1q autoantibodies and rheumatoid factor were also significantly elevated. He was treated with a combination of anti-CD20 monoclonal antibody and steroids, resulting in a significant improvement in his clinical symptoms and laboratory markers. He underwent a matched sibling bone marrow transplant (BMT) and is currently well 45 days post-transplant. Discussion: In conclusion, vasculitis in WAS requires prompt treatment due to the risk of severe morbidity and is a consideration for BMT.