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

Clinical and Experimental Immunology

Volumn 176, Issue 3, 2014, Pages 394-400

  Ammann, S ^a,b   Elling, R ^a   Gyrd Hansen, M ^h   Duckers G ^c   Bredius, R ^m   Burns, S O ⁱ   Edgar, J D M ^l   Worth, A ^j,k   Brandau, H ^d   Warnatz, K ^a   zur Stadt, U ^e   Hasselblatt, P ^a   Schwarz, K ^f,g   Ehl, S ^a   Speckmann, C ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c HELIOS KLINIKUM KREFELD   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f UNIVERSITY OF ULM   (Germany)

^g German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k Institute of Child Health ^*  (United Kingdom)

^l ROYAL VICTORIA HOSPITAL   (United Kingdom)

^m LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Crohn's disease; MDP; NOD2; XIAP; XLP

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; MURAMYL DIPEPTIDE; PEPTIDOGLYCAN; X LINKED INHIBITOR OF APOPTOSIS;

APOPTOSIS ASSAY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CONTROL; FEMALE; FLOW CYTOMETRY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INFLAMMATORY BOWEL DISEASE; LYMPHOCYTE; LYMPHOCYTE PROLIFERATION; MONOCYTE; MUTATION; OLIGOMERIZATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

CROHN'S DISEASE; MDP; NOD2; XIAP; XLP;

ACETYLMURAMYL-ALANYL-ISOGLUTAMINE; ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; FLOW CYTOMETRY; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOPHENOTYPING; INFANT; LEUKOCYTES, MONONUCLEAR; MALE; MIDDLE AGED; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; PHENOTYPE; T-LYMPHOCYTES; TUMOR NECROSIS FACTORS; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN; YOUNG ADULT;

EID: 84899085336     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/cei.12306     Document Type: Article

References (22)

1. Rigaud S, Fondaneche MC, Lambert N etal. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444:110-114.
2. Marsh RA, Madden L, Kitchen BJ etal. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 2010; 116:1079-1082.
3. Speckmann C, Lehmberg K, Albert MH etal. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 2013; 149:133-141.
4. Pachlopnik Schmid J, Canioni D, Moshous D etal. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 2011; 117:1522-1529.
5. Yang X, Kanegane H, Nishida N etal. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol 2012; 32:411-420.
6. Speckmann C, Ehl S. XIAP deficiency is a mendelian cause of late-onset IBD. Gut 2013. gutjnl-2013-306474. doi:10.1136/gutjnl-2013-306474. [Epub ahead of print]
7. Gyrd-Hansen M, Meier P. IAPs: from caspase inhibitors to modulators of NF-kappaB, inflammation and cancer. Nat Rev Cancer 2010; 10:561-574.
8. Damgaard RB, Fiil BK, Speckmann C etal. Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling. EMBO Mol Med 2013; 5:1278-1295.
9. Damgaard RB, Nachbur U, Yabal M etal. The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. Mol Cell 2012; 46:746-758.
10. Krieg A, Correa RG, Garrison JB etal. XIAP mediates NOD signaling via interaction with RIP2. Proc Natl Acad Sci USA 2009; 106:14524-14529.
11. Bauler LD, Duckett CS, O'Riordan MX. XIAP regulates cytosol-specific innate immunity to Listeria infection. PLOS Pathog 2008; 4:e1000142.
12. Lipinski S, Grabe N, Jacobs G etal. RNAi screening identifies mediators of NOD2 signaling: implications for spatial specificity of MDP recognition. Proc Natl Acad Sci USA 2012; 109:21426-21431.
13. Girardin SE, Boneca IG, Viala J etal. Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem 2003; 278:8869-8872.
14. Inohara N, Ogura Y, Fontalba A etal. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease. J Biol Chem 2003; 278:5509-5512.
15. Van Limbergen J, Wilson DC, Satsangi J. The genetics of Crohn's disease. Annu Rev Genomics Hum Genet 2009; 10:89-116.
16. van Heel DA, Ghosh S, Butler M etal. Muramyl dipeptide and Toll-like receptor sensitivity in NOD2-associated Crohn's disease. Lancet 2005; 365:1794-1796.
17. Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem 2001; 276:4812-4818.
18. Beug ST, Cheung HH, LaCasse EC, Korneluk RG. Modulation of immune signalling by inhibitors of apoptosis. Trends Immunol 2012; 33:535-545.
19. Worthey EA, Mayer AN, Syverson GD etal. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011; 13:255-262.
20. Bryceson YT, Pende D, Maul-Pavicic A etal. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 2012; 119:2754-2763.
21. Marsh RA, Bleesing JJ, Filipovich AH. Flow cytometric measurement of SLAM-associated protein and X-linked inhibitor of apoptosis. Methods Mol Biol 2013; 979:189-197.
22. Marsh RA, Villanueva J, Kim MO etal. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol 2009; 132:116-123.