Literature DB >> 27492372

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

Cathal L Steele1, Matthew Doré2, Sandra Ammann3, Maurice Loughrey4, Angeles Montero5, Siobhan O Burns6, Emma C Morris6, Bobby Gaspar7, Kimberly Gilmour8, Shahnaz Bibi8, Hiba Shendi2, Lisa Devlin2, Carsten Speckmann9, David M Edgar10.   

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.

Entities:  

Keywords:  Azathioprine; GLILD; Granulomatous hepatitis; Rituximab; XIAP deficiency

Mesh：

Substances：

Year:  2016        PMID： 27492372     DOI： 10.1007/s10875-016-0320-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  19 in total

Review 1.  IAP proteins: blocking the road to death's door.

Authors:  Guy S Salvesen; Colin S Duckett
Journal:  Nat Rev Mol Cell Biol       Date:  2002-06       Impact factor: 94.444

Review 2.  New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome.

Authors:  David T Teachey
Journal:  Curr Opin Pediatr       Date:  2012-02       Impact factor: 2.856

3.  Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID).

Authors:  Nicole M Chase; James W Verbsky; Mary K Hintermeyer; Jill K Waukau; Aoy Tomita-Mitchell; James T Casper; Sumit Singh; Kaushik S Shahir; William B Tisol; Melodee L Nugent; R Nagarjun Rao; A Craig Mackinnon; Lawrence R Goodman; Pippa M Simpson; John M Routes
Journal:  J Clin Immunol       Date:  2012-08-29       Impact factor: 8.317

4.  XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.

Authors:  Rebecca A Marsh; Lisa Madden; Brenda J Kitchen; Rajen Mody; Brad McClimon; Michael B Jordan; Jack J Bleesing; Kejian Zhang; Alexandra H Filipovich
Journal:  Blood       Date:  2010-05-20       Impact factor: 22.113

5.  A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

Authors:  S Ammann; R Elling; M Gyrd-Hansen; G Dückers; R Bredius; S O Burns; J D M Edgar; A Worth; H Brandau; K Warnatz; U Zur Stadt; P Hasselblatt; K Schwarz; S Ehl; C Speckmann
Journal:  Clin Exp Immunol       Date:  2014-06       Impact factor: 4.330

6.  A critical role of RICK/RIP2 polyubiquitination in Nod-induced NF-kappaB activation.

Authors:  Mizuho Hasegawa; Yukari Fujimoto; Peter C Lucas; Hiroyasu Nakano; Koichi Fukase; Gabriel Núñez; Naohiro Inohara
Journal:  EMBO J       Date:  2007-12-13       Impact factor: 11.598

7.  An immunodeficiency disease with RAG mutations and granulomas.

Authors:  Catharina Schuetz; Kirsten Huck; Sonja Gudowius; Mosaad Megahed; Oliver Feyen; Bernd Hubner; Dominik T Schneider; Burkhard Manfras; Ulrich Pannicke; Rein Willemze; Ruth Knüchel; Ulrich Göbel; Ansgar Schulz; Arndt Borkhardt; Wilhelm Friedrich; Klaus Schwarz; Tim Niehues
Journal:  N Engl J Med       Date:  2008-05-08       Impact factor: 91.245

8.  The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Authors:  Laura Gámez-Díaz; Dietrich August; Polina Stepensky; Shoshana Revel-Vilk; Markus G Seidel; Mitsuiki Noriko; Tomohiro Morio; Austen J J Worth; Jacob Blessing; Frank Van de Veerdonk; Tobias Feuchtinger; Maria Kanariou; Annette Schmitt-Graeff; Sophie Jung; Suranjith Seneviratne; Siobhan Burns; Bernd H Belohradsky; Nima Rezaei; Shahrzad Bakhtiar; Carsten Speckmann; Michael Jordan; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2016-01       Impact factor: 10.793

9.  X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

Authors:  C Speckmann; K Lehmberg; M H Albert; R B Damgaard; M Fritsch; M Gyrd-Hansen; A Rensing-Ehl; T Vraetz; B Grimbacher; U Salzer; I Fuchs; H Ufheil; B H Belohradsky; A Hassan; C M Cale; M Elawad; B Strahm; S Schibli; M Lauten; M Kohl; J J Meerpohl; B Rodeck; R Kolb; W Eberl; J Soerensen; H von Bernuth; M Lorenz; K Schwarz; U Zur Stadt; S Ehl
Journal:  Clin Immunol       Date:  2013-07-31       Impact factor: 3.969

10.  Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Authors:  Desirée Schubert; Claudia Bode; Rupert Kenefeck; Tie Zheng Hou; Lucy S K Walker; David M Sansom; Bodo Grimbacher; James B Wing; Alan Kennedy; Alla Bulashevska; Britt-Sabina Petersen; Alejandro A Schäffer; Björn A Grüning; Susanne Unger; Natalie Frede; Ulrich Baumann; Torsten Witte; Reinhold E Schmidt; Gregor Dueckers; Tim Niehues; Suranjith Seneviratne; Maria Kanariou; Carsten Speckmann; Stephan Ehl; Anne Rensing-Ehl; Klaus Warnatz; Mirzokhid Rakhmanov; Robert Thimme; Peter Hasselblatt; Florian Emmerich; Toni Cathomen; Rolf Backofen; Paul Fisch; Maximilian Seidl; Annette May; Annette Schmitt-Graeff; Shinji Ikemizu; Ulrich Salzer; Andre Franke; Shimon Sakaguchi
Journal:  Nat Med       Date:  2014-10-20       Impact factor: 53.440
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  6 in total

Review 1.  Pediatric hemophagocytic lymphohistiocytosis.

Authors:  Scott W Canna; Rebecca A Marsh
Journal:  Blood       Date:  2020-04-16       Impact factor: 22.113

Review 2.  Granulomatous-Lymphocytic Interstitial Lung Disease in 22q11.2 Deletion Syndrome: a Case Report and Literature Review.

Authors:  Amika K Sood; William Funkhouser; Brian Handly; Brent Weston; Eveline Y Wu
Journal:  Curr Allergy Asthma Rep       Date:  2018-02-22       Impact factor: 4.806

Review 3.  Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis.

Authors:  Rebecca A Marsh
Journal:  Front Immunol       Date:  2018-01-08       Impact factor: 7.561

4.  Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.

Authors:  Jiamei Tang; Xiaoying Zhou; Lan Wang; Guorui Hu; Bixia Zheng; Chunli Wang; Yan Lu; Yu Jin; Hongmei Guo; Zhifeng Liu
Journal:  BMC Pediatr       Date:  2020-04-18       Impact factor: 2.125

5.  Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey.

Authors:  Annick A J M van de Ven; Tiago M Alfaro; Alexandra Robinson; Ulrich Baumann; Anne Bergeron; Siobhan O Burns; Alison M Condliffe; Børre Fevang; Andrew R Gennery; Filomeen Haerynck; Joseph Jacob; Stephen Jolles; Marion Malphettes; Véronique Meignin; Tomas Milota; Joris van Montfrans; Antje Prasse; Isabella Quinti; Elisabetta Renzoni; Daiana Stolz; Klaus Warnatz; John R Hurst
Journal:  Front Immunol       Date:  2020-11-26       Impact factor: 7.561

Review 6.  Evolution of Our Understanding of XIAP Deficiency.

Authors:  Anne C A Mudde; Claire Booth; Rebecca A Marsh
Journal:  Front Pediatr       Date:  2021-06-17       Impact factor: 3.418
  6 in total

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