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Home > D. Systemic pathology > Immune system diseases > Wegener granulomatosis

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Wegener granulomatosis

MIM.608710

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Wegener granulomatosis is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera.

- These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3) (MIM.177020), that is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes.

- On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs.

- PMNs from patients with active WG express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process. (14968360)

Localization

- pulmonary Wegener granulomatosis

Predisposition

- locus 6p21.3 (14968360)

Associations

- Wegener granulomatosis (8296646)
- Henoch-Schönlein purpura (8296646)

References

- Yi ES, Colby TV. Wegener’s granulomatosis. Semin Diagn Pathol. 2001 Feb;18(1):34-46. PMID: 11296992

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