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

Journal of Clinical Immunology

Volumn 36, Issue 7, 2016, Pages 733-738

  Steele, Cathal L ^a   Doré, Matthew ^a   Ammann, Sandra ^b   Loughrey, Maurice ^c   Montero, Angeles ^d   Burns, Siobhan O ^e   Morris, Emma C ^e   Gaspar, Bobby ^f   Gilmour, Kimberly ^g   Bibi, Shahnaz ^g   Shendi, Hiba ^a   Devlin, Lisa ^a   Speckmann, Carsten ^b   Edgar, David M ^c  

^a ROYAL VICTORIA HOSPITAL   (United Kingdom)

^b UNIVERSITY OF FREIBURG   (Germany)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Azathioprine; GLILD; Granulomatous hepatitis; Rituximab; XIAP deficiency

Indexed keywords

AZATHIOPRINE; IMMUNOGLOBULIN G; PREDNISOLONE; RAPAMYCIN; RITUXIMAB; X LINKED INHIBITOR OF APOPTOSIS; BIOLOGICAL MARKER; IMMUNOGLOBULIN; IMMUNOLOGIC FACTOR; XIAP PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CELL DEATH; COLITIS; COMBINATION CHEMOTHERAPY; COMPUTER ASSISTED TOMOGRAPHY; CORTICOSTEROID THERAPY; CYTOPENIA; EPSTEIN BARR VIRUS INFECTION; ERYTHROPHAGOCYTOSIS; FEVER; GRANULOMATOUS HEPATITIS; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN TISSUE; HYPERPLASIA; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; INTERSTITIAL LUNG DISEASE; LIVER BIOPSY; LIVER FIBROSIS; LUNG BIOPSY; LUNG FUNCTION TEST; LUNG GRANULOMATOSIS; LYMPHADENOPATHY; MALE; NATURAL KILLER CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPLENOMEGALY; THROMBOCYTE COUNT; WEIGHT REDUCTION; YOUNG ADULT; BIOPSY; BONE MARROW; COMPLICATION; FEMALE; GENETICS; HEPATITIS; IMMUNOLOGY; IMMUNOPHENOTYPING; LIVER; LYMPH NODE; LYMPHOCYTE; LYMPHOPROLIFERATIVE DISEASE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; X CHROMOSOME LINKED DISORDER; X-RAY COMPUTED TOMOGRAPHY;

AZATHIOPRINE; BIOMARKERS; BIOPSY; BONE MARROW; CHILD, PRESCHOOL; FEMALE; GENETIC DISEASES, X-LINKED; HEPATITIS; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; IMMUNOLOGIC FACTORS; IMMUNOPHENOTYPING; LIVER; LUNG DISEASES, INTERSTITIAL; LYMPH NODES; LYMPHOCYTES; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYMPHOPROLIFERATIVE DISORDERS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RESPIRATORY FUNCTION TESTS; RITUXIMAB; TOMOGRAPHY, X-RAY COMPUTED; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 84982948273     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0320-3     Document Type: Article

References (19)

1. Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444(7115):110–4.
2. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010;116(7):1079–82.
3. Latour S, Aguilar C. XIAP deficiency syndrome in humans. Semin Cell Dev Biol. 2015;39:115–23.
4. Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, et al. Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. J Clin Immunol. 2015;35:439–44.
5. Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol. 2013;149(1):133–41.
6. Salvesen GS, Duckett CS. IAP proteins: blocking the road to death’s door. Nat Rev Mol Cell Biol. 2002;3(6):401–10.
7. Park JH, Kim YG, Shaw M, Kanneganti TD, Fujimoto Y, Fukase K, et al. Nod1/RICK and TLR signaling regulate chemokine and antimicrobial innate immune responses in mesothelial cells. J Immunol. 2007;179(1):514–21.
8. Hasegawa M, Fujimoto Y, Lucas PC, Nakano H, Fukase K, Nunez G, et al. A critical role of RICK/RIP2 polyubiquitination in Nod-induced NF-kappaB activation. EMBO J. 2008;27(2):373–83.
9. Bates CA, Ellison MC, Lynch DA, Cool CD, Brown KK, Routes JM. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol. 2004;114(2):415–21.
10. Gamez-Diaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol. 2016;137(1):223–30.
11. Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20(12):1410–6.
12. Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;358(19):2030–8.
13. De Dios JA, Javaid AA, Ballesteros E, Metersky ML. An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease. Conn Med. 2012;76(1):15–8.
14. Chase NM, Verbsky JW, Hintermeyer MK, Waukau JK, Tomita-Mitchell A, Casper JT, et al. Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID). J Clin Immunol. 2013;33(1):30–9.
15. Ammann S, Elling R, Gyrd-Hansen M, Duckers G, Bredius R, Burns SO, et al. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. Clin Exp Immunol. 2014;176(3):394–400.
16. Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012;119(12):2754–63.
17. Teachey DT. New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome. Curr Opin Pediatr. 2012;24(1):1–8.
18. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature. 2001;411(6837):599–603.
19. Strober W, Asano N, Fuss I, Kitani A, Watanabe T. Cellular and molecular mechanisms underlying NOD2 risk-associated polymorphisms in Crohn’s disease. Immunol Rev. 2014;260(1):249–60.