Pediatric Rheumatology Online Journal → August 2003 → Miscellaneous Clinical Studies and Case Reports → Abstract #197

GRANULOMATOUS DISEASE IN WISKOTT-ALDRICH SYNDROME

A. S. Padula, C. D. Rose

¹Pediatrics, duPont Children's Hospital, Thomas Jefferson University, Wilmington, DE, United States

Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive disorder characterized by a triad of thrombocytopenia, severe eczematoid dermatitis, and deficient T and B-cell-mediated immune responses. The immunologic dysfunction is progressive, and there is a recognized increased risk of autoimmune disease (including leukocytoclastic vasculitis) and malignancy. Association with granulomatous disease, on the other hand, has not been described to our knowledge.
We report on a 3 year old boy with WAS status-post splenectomy (for refractory thrombocytopenia) who developed a right knee effusion, a leukocytoclastic vasculitis and generalized lymphadenopathy (peripheral, mediastinal and mesenteric). Lymph node biopsies revealed granulomatta. Exhaustive evaluation for infections has remained negative. Although the course of his disease has been relatively benign, this complication which has responded to corticosteroids may be his indication for allogenic bone marrow transplant if his sarcoid-like disease recurs after corticosteroid tapering.
A sarcoid-like process has been widely recognized as complicating other immune deficiencies including Common Variable Immunodeficiency, infection with HIV, Chronic Granulomatous Disease and Leukocyte Adhesion Deficiency.
The exact mechanism for granuloma formation is unknown, but may involve disordered antigen presentation, functional abnormalities in activated T-lymphocytes and uncontrolled cytokine production. Although the coexistence of Primary Sarcoidosis remains as a possibility, the immunologic dysfunction related to WAS is the probable cause.
Summary: We are reporting a previously unrecognized complication of WAS: Sarcoid-like disease complicating leucocytoclastic vasculitis. This manifestation may add unexpected morbidity to this otherwise severe disorder of the immune system.