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Journal of Clinical Immunology

, Volume 36, Issue 7, pp 733–738 | Cite as

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

  • Cathal L. SteeleEmail author
  • 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
Original 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.

Keywords

XIAP deficiency GLILD Rituximab Azathioprine Granulomatous hepatitis 

Notes

Acknowledgment

The authors wish to thank Dr Derek Fairley and Dr Robert Cuthbert for their assistance with this article (16S real-time PCR testing and bone marrow aspirate images respectively).

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Cathal L. Steele
    • 1
    Email author
  • Matthew Doré
    • 1
  • Sandra Ammann
    • 2
  • Maurice Loughrey
    • 3
  • Angeles Montero
    • 4
  • Siobhan O. Burns
    • 5
  • Emma C. Morris
    • 5
  • Bobby Gaspar
    • 6
  • Kimberly Gilmour
    • 7
  • Shahnaz Bibi
    • 7
  • Hiba Shendi
    • 1
  • Lisa Devlin
    • 1
  • Carsten Speckmann
    • 8
  • David M. Edgar
    • 9
  1. 1.Regional Immunology Service, Royal Victoria Hospital, The Belfast TrustBelfastUK
  2. 2.Centre for Chronic ImmunodeficiencyUniversity Medical Centre FreiburgFreiburgGermany
  3. 3.Royal Victoria Hospital, The Belfast TrustUK and Queen’s University BelfastBelfastUK
  4. 4.Royal Brompton and Harefield Hospitals NHS Foundation TrustLondonUK
  5. 5.Department of Immunology, Royal Free London NHS Foundation TrustUniversity College London Institute of Immunity and TransplantationLondonUK
  6. 6.University College London Institute of Child HealthLondonUK
  7. 7.Department of ImmunologyGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUK
  8. 8.Department of Paediatrics and Adolescent Medicine, Germany and Centre for Chronic ImmunodeficiencyUniversity Medical Centre FreiburgFreiburgGermany
  9. 9.Regional Immunology Service, Royal Victoria Hospital, The Belfast TrustQueen’s University BelfastBelfastUK

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