title: X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.
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.
authors: Regional Immunology Service, Royal Victoria Hospital, The Belfast Trust, Belfast, UK. cathal.steele@nhs.net.
authors: Cathal L
authors: CL
authors: Steele
authors: Regional Immunology Service, Royal Victoria Hospital, The Belfast Trust, Belfast, UK.
authors: Matthew
authors: M
authors: Doré
authors: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
authors: Sandra
authors: S
authors: Ammann
authors: Royal Victoria Hospital, The Belfast Trust, UK and Queen's University Belfast, Belfast, UK.
authors: Maurice
authors: M
authors: Loughrey
authors: Royal Brompton and Harefield Hospitals NHS Foundation Trust, London, UK.
authors: Angeles
authors: A
authors: Montero
authors: Department of Immunology, Royal Free London NHS Foundation Trust, University College London Institute of Immunity and Transplantation, London, UK.
authors: Siobhan O
authors: SO
authors: Burns
authors: Department of Immunology, Royal Free London NHS Foundation Trust, University College London Institute of Immunity and Transplantation, London, UK.
authors: Emma C
authors: EC
authors: Morris
authors: University College London Institute of Child Health, London, UK.
authors: Bobby
authors: B
authors: Gaspar
authors: Department of Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors: Kimberly
authors: K
authors: Gilmour
authors: Department of Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors: Shahnaz
authors: S
authors: Bibi
authors: Regional Immunology Service, Royal Victoria Hospital, The Belfast Trust, Belfast, UK.
authors: Hiba
authors: H
authors: Shendi
authors: Regional Immunology Service, Royal Victoria Hospital, The Belfast Trust, Belfast, UK.
authors: Lisa
authors: L
authors: Devlin
authors: Department of Paediatrics and Adolescent Medicine, Germany and Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
authors: Carsten
authors: C
authors: Speckmann
authors: Regional Immunology Service, Royal Victoria Hospital, The Belfast Trust, Queen's University Belfast, Belfast, UK.
authors: David M
authors: DM
authors: Edgar
mesh_terms: D001379:Azathioprine / Q000627:therapeutic use; D015415:Biomarkers; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006505:Hepatitis / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D016130:Immunophenotyping; D008099:Liver / Q000473:pathology; D017563:Lung Diseases, Interstitial / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D008198:Lymph Nodes / Q000473:pathology; D008214:Lymphocytes / Q000276:immunology / Q000378:metabolism; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012129:Respiratory Function Tests; D000069283:Rituximab / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics
chemical_list: D015415:Biomarkers; D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human; D000069283:Rituximab; D001379:Azathioprine
keywords: Azathioprine; GLILD; Granulomatous hepatitis; Rituximab; XIAP deficiency