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(Journal Article) |
Journal of clinical immunology 36 (7): 733-8 (2016)
X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.
Cathal L Steele
,
Matthew Doré
,
Sandra Ammann
,
Maurice Loughrey
,
Angeles Montero
,
Siobhan O Burns
,
Emma C Morris
,
Bobby Gaspar
,
Kimberly Gilmour
,
Shahnaz Bibi
,
Hiba Shendi
,
Lisa Devlin
,
Carsten Speckmann
,
David M Edgar
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.