X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

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 in...

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Veröffentlicht in:	Journal of clinical immunology 2016-10, Vol.36 (7), p.733-738
Hauptverfasser:	Steele, Cathal L., Doré, Matthew, Ammann, Sandra, Loughrey, Maurice, Montero, Angeles, Burns, Siobhan O., Morris, Emma C., Gaspar, Bobby, Gilmour, Kimberly, Bibi, Shahnaz, Shendi, Hiba, Devlin, Lisa, Speckmann, Carsten, Edgar, David M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Azathioprine - therapeutic use Biomarkers Biomedical and Life Sciences Biomedicine Biopsy Bone Marrow - pathology Child, Preschool Epstein-Barr virus Female Genetic Diseases, X-Linked - complications Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - therapy Hepatitis - complications Hepatitis - diagnosis Hepatitis - therapy Humans Immunoglobulins, Intravenous - therapeutic use Immunologic Factors - therapeutic use Immunology Immunophenotyping Infectious Diseases Internal Medicine Liver - pathology Lung Diseases, Interstitial - complications Lung Diseases, Interstitial - diagnosis Lung Diseases, Interstitial - drug therapy Lymph Nodes - pathology Lymphocytes - immunology Lymphocytes - metabolism Lymphohistiocytosis, Hemophagocytic - complications Lymphohistiocytosis, Hemophagocytic - diagnosis Lymphohistiocytosis, Hemophagocytic - therapy Lymphoproliferative Disorders - complications Lymphoproliferative Disorders - diagnosis Lymphoproliferative Disorders - genetics Lymphoproliferative Disorders - therapy Male Medical Microbiology Mutation Original Article Pedigree Phenotype Respiratory Function Tests Rituximab - therapeutic use Tomography, X-Ray Computed X-Linked Inhibitor of Apoptosis Protein - genetics
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Zusammenfassung:	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.
ISSN:	0271-9142 1573-2592
DOI:	10.1007/s10875-016-0320-3