Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency

Cytokine

Volumn 65, Issue 1, 2014, Pages 74-78

  Wada, Taizo ^a   Kanegane, Hirokazu ^b   Ohta, Kazuhide ^c   Katoh, Fumiyo ^d   Imamura, Toshihiko ^e   Nakazawa, Yozo ^f   Miyashita, Ritsuko ^g   Hara, Junichi ^h   Hamamoto, Kazuko ⁱ   Yang, Xi ^b   Filipovich, Alexandra H ^j   Marsh, Rebecca A ^j   Yachie, Akihiro ^a  

^a KANAZAWA UNIV SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION KANAZAWA MEDICAL CENTER   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^f SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Izumiotsu Municipal Hospital   (Japan)

^h OSAKA CITY GENERAL HOSPITAL   (Japan)

ⁱ ATOMIC BOMB SURVIVORS HOSPITAL   (Japan)

^j CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

more..

Author keywords

Hemophagocytic lymphohistiocytosis (HLH); Interleukin 18; X linked inhibitor of apoptosis (XIAP); X linked lymphoproliferative syndrome (XLP)

Indexed keywords

INTERLEUKIN 18; X LINKED INHIBITOR OF APOPTOSIS;

ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOKINE RELEASE; DISEASE ACTIVITY; DISEASE ASSOCIATION; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HEMOPHAGOCYTIC SYNDROME; HUMAN; IN VITRO STUDY; INFANT; MALE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; OUTCOME ASSESSMENT; PATIENT ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DETERMINATION; PROTEIN FUNCTION; X LINKED INHIBITOR OF APOPTOSIS GENE;

HUMAN HERPESVIRUS 4;

ADENOSINE TRIPHOSPHATE; ADULT-ONSET STILL'S DISEASE; AOSD; ATP; EBV; EPSTEIN-BARR VIRUS; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; FHL; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH); HLH; INTERLEUKIN-18; LIPOPOLYSACCHARIDE; LPS; NATURAL KILLER; NK; NOD2; NUCLEOTIDE-BINDING AND OLIGOMERIZATION DOMAIN 2; PBMCS; PERIPHERAL BLOOD MONONUCLEAR CELLS; SAP; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE; SJIA; SLAM; SLAM-ASSOCIATED PROTEIN; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; X-LINKED INHIBITOR OF APOPTOSIS; X-LINKED INHIBITOR OF APOPTOSIS (XIAP); X-LINKED LYMPHOPROLIFERATIVE SYNDROME; X-LINKED LYMPHOPROLIFERATIVE SYNDROME (XLP); XIAP; XLP;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INTERLEUKIN-18; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYMPHOPROLIFERATIVE DISORDERS; MALE; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 84888197109     PISSN: 10434666     EISSN: 10960023     Source Type: Journal    
DOI: 10.1016/j.cyto.2013.09.007     Document Type: Article

References (36)

1. Filipovich A.H., Zhang K., Snow A.L., Marsh R.A. X-linked lymphoproliferative syndromes: brothers or distant cousins?. Blood 2010, 116:3398-3408.
2. Pachlopnik Schmid J., Canioni D., Moshous D., Touzot F., Mahlaoui N., Hauck F., et al. 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.
3. Yang X., Miyawaki T., Kanegane H. SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int 2012, 54:447-454.
4. Rigaud S., Fondaneche M.C., Lambert N., Pasquier B., Mateo V., Soulas P., et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006, 444:110-114.
5. Marsh R.A., Madden L., Kitchen B.J., Mody R., McClimon B., Jordan M.B., 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, 116:1079-1082.
6. Janka G.E. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med 2012, 63:233-246.
7. Usmani G.N., Woda B.A., Newburger P.E. Advances in understanding the pathogenesis of HLH. Br J Haematol 2013, 161:609-622.
8. Ishii E., Ohga S., Imashuku S., Yasukawa M., Tsuda H., Miura I., et al. Nationwide survey of hemophagocytic lymphohistiocytosis in Japan. Int J Hematol 2007, 86:58-65.
9. Tang Y., Xu X., Song H., Yang S., Shi S., Wei J., et al. Early diagnostic and prognostic significance of a specific Th1/Th2 cytokine pattern in children with haemophagocytic syndrome. Br J Haematol 2008, 143:84-91.
10. My L.T., Lien le B., Hsieh W.C., Imamura T., Anh T.N., Anh P.N., et al. Comprehensive analyses and characterization of haemophagocytic lymphohistiocytosis in Vietnamese children. Br J Haematol 2010, 148:301-310.
11. Xu X.J., Tang Y.M., Song H., Yang S.L., Xu W.Q., Zhao N., et al. Diagnostic accuracy of a specific cytokine pattern in hemophagocytic lymphohistiocytosis in children. J Pediatr 2012, 160(984-90):e1.
12. Barker B.R., Taxman D.J., Ting J.P. Cross-regulation between the IL-1beta/IL-18 processing inflammasome and other inflammatory cytokines. Curr Opin Immunol 2011, 23:591-597.
13. van de Veerdonk F.L., Netea M.G., Dinarello C.A., Joosten L.A. Inflammasome activation and IL-1beta and IL-18 processing during infection. Trends Immunol 2011, 32:110-116.
14. Yang X., Kanegane H., Nishida N., Imamura T., Hamamoto K., Miyashita R., et al. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol 2012, 32:411-420.
15. Zhao M., Kanegane H., Ouchi K., Imamura T., Latour S., Miyawaki T. A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica 2010, 95:688-689.
16. Marsh R.A., Rao K., Satwani P., Lehmberg K., Muller I., Li D., et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2013, 121:877-883.
17. Wada T., Muraoka M., Yokoyama T., Toma T., Kanegane H., Yachie A. Cytokine profiles in children with primary Epstein-Barr virus infection. Pediatr Blood Cancer 2013, 60:E46-E48.
18. Toga A., Wada T., Sakakibara Y., Mase S., Araki R., Tone Y., et al. Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis. J Infect Dis 2010, 201:1923-1932.
19. Shimizu M., Yokoyama T., Yamada K., Kaneda H., Wada H., Wada T., et al. Distinct cytokine profiles of systemic-onset juvenile idiopathic arthritis-associated macrophage activation syndrome with particular emphasis on the role of interleukin-18 in its pathogenesis. Rheumatology (Oxford) 2010, 49:1645-1653.
20. Li H., Nookala S., Re F. Aluminum hydroxide adjuvants activate caspase-1 and induce IL-1beta and IL-18 release. J Immunol 2007, 178:5271-5276.
21. Maeno N., Takei S., Nomura Y., Imanaka H., Hokonohara M., Miyata K. Highly elevated serum levels of interleukin-18 in systemic juvenile idiopathic arthritis but not in other juvenile idiopathic arthritis subtypes or in Kawasaki disease: comment on the article by Kawashima et al. Arthritis Rheum 2002, 46:2539-2541. [author reply 41-2].
22. Lotito A.P., Campa A., Silva C.A., Kiss M.H., Mello S.B. Interleukin 18 as a marker of disease activity and severity in patients with juvenile idiopathic arthritis. J Rheumatol 2007, 34:823-830.
23. Jelusic M., Lukic I.K., Tambic-Bukovac L., Dubravcic K., Malcic I., Rudan I., et al. Interleukin-18 as a mediator of systemic juvenile idiopathic arthritis. Clin Rheumatol 2007, 26:1332-1334.
24. Kawashima M., Yamamura M., Taniai M., Yamauchi H., Tanimoto T., Kurimoto M., et al. Levels of interleukin-18 and its binding inhibitors in the blood circulation of patients with adult-onset Still's disease. Arthritis Rheum 2001, 44:550-560.
25. Kawaguchi Y., Terajima H., Harigai M., Hara M., Kamatani N. Interleukin-18 as a novel diagnostic marker and indicator of disease severity in adult-onset Still's disease. Arthritis Rheum 2001, 44:1716-1717.
26. Shimizu M., Nakagishi Y., Yachie A. Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles. Cytokine 2013, 61:345-348.
27. de Jager W., Vastert S.J., Beekman J.M., Wulffraat N.M., Kuis W., Coffer P.J., et al. Defective phosphorylation of interleukin-18 receptor beta causes impaired natural killer cell function in systemic-onset juvenile idiopathic arthritis. Arthritis Rheum 2009, 60:2782-2793.
28. Behrens E.M., Beukelman T., Gallo L., Spangler J., Rosenkranz M., Arkachaisri T., et al. Evaluation of the presentation of systemic onset juvenile rheumatoid arthritis: data from the Pennsylvania Systemic Onset Juvenile Arthritis Registry (PASOJAR). J Rheumatol 2008, 35:343-348.
29. Damgaard R.B., Nachbur U., Yabal M., Wong W.W., Fiil B.K., Kastirr M., et al. The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. Mol Cell 2012, 46:746-758.
30. Conde C., Rambout X., Lebrun M., Lecat A., Di Valentin E., Dequiedt F., et al. The inositol phosphatase SHIP-1 inhibits NOD2-induced NF-kappaB activation by disturbing the interaction of XIAP with RIP2. PLoS One 2012, 7:e41005.
31. Lipinski S., Grabe N., Jacobs G., Billmann-Born S., Till A., Hasler R., et al. RNAi screening identifies mediators of NOD2 signaling: Implications for spatial specificity of MDP recognition. Proc Natl Acad Sci USA 2012.
32. Marsh R.A., Villanueva J., Kim M.O., Zhang K., Marmer D., Risma K.A., et al. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol 2009, 132:116-123.
33. Rumble J.M., Oetjen K.A., Stein P.L., Schwartzberg P.L., Moore B.B., Duckett C.S. Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). Cell Immunol 2009, 259:82-89.
34. Bauler L.D., Duckett C.S., O'Riordan M.X. XIAP regulates cytosol-specific innate immunity to Listeria infection. PLoS Pathog 2008, 4:e1000142.
35. Prakash H., Albrecht M., Becker D., Kuhlmann T., Rudel T. Deficiency of XIAP leads to sensitization for Chlamydophila pneumoniae pulmonary infection and dysregulation of innate immune response in mice. J Biol Chem 2010, 285:20291-20302.
36. Takada H., Ohga S., Mizuno Y., Suminoe A., Matsuzaki A., Ihara K., et al. Oversecretion of IL-18 in haemophagocytic lymphohistiocytosis: a novel marker of disease activity. Br J Haematol 1999, 106:182-189.