AI Article Synopsis
- XIAP deficiency is an immunodeficiency that leads to severe immune reactions like EBV-driven HLH, splenomegaly, and colitis.
- This study highlights new complications of XIAP deficiency, including granulomatous hepatitis and GLILD in patients.
- Successful treatment of GLILD was achieved using rituximab and azathioprine, underscoring the impact of XIAP deficiency on immune regulation.
Article Abstract
The X-linked inhibitor of apoptosis (XIAP) deficiency is a primary immunodeficiency characterized by Epstein-Barr virus (EBV)-driven hemophagocytic lymphohistiocytosis (HLH), splenomegaly, and colitis. Here, we present, for the first time, granulomatous hepatitis and granulomatous and lymphocytic interstitial lung disease (GLILD) as manifestations of XIAP deficiency. We report successful treatment of GLILD in XIAP deficiency with rituximab and azathioprine and discuss the role of XIAP deficiency in immune dysregulation.
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| http://dx.doi.org/10.1007/s10875-016-0320-3 | DOI Listing |
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