Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

Gastroenterology - Tập 143 - Trang 347-355 - 2012
Daniel Kotlarz1,2, Rita Beier1, Dhaarini Murugan1,2, Jana Diestelhorst1,2, Ole Jensen1,2, Kaan Boztug1, Dietmar Pfeifer3, Hans Kreipe4, Eva–Doreen Pfister5, Ulrich Baumann5, Jacek Puchalka2, Jens Bohne6, Odul Egritas7, Buket Dalgic7, Kaija–Leena Kolho8, Axel Sauerbrey9, Stephan Buderus10, Tayfun Güngör11, Axel Enninger12, Yu Kar Ling Koda13
1Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany
2Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig Maximilian University, Münich, Germany
3Department of Hematology/Oncology, Genomics Core Lab, Freiburg University Medical Center, Freiburg, Germany
4Department of Pathology, Hannover Medical School, Hannover, Germany
5Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany
6Institute for Virology, Hannover Medical School, Hannover, Germany
7Department of Pediatric Gastroenterology, Gazi University, School of Medicine, Ankara, Turkey
8Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland
9Department of Pediatrics, HELIOS Hospital Erfurt, Erfurt, Germany
10Department of Pediatrics, St-Marien-Hospital Bonn, Bonn, Germany
11Division of Immunology/Hematology/BMT, University Children's Hospital, Zürich, Switzerland;
12Department of Pediatrics, Klinikum Stuttgart, Olgahospital, Stuttgart, Germany
13Pediatric Gastroenterology Division, University of Sao Paulo, Sao Paulo, Brazil

Tài liệu tham khảo

Abraham, 2009, Inflammatory bowel disease, N Engl J Med, 361, 2066, 10.1056/NEJMra0804647 Podolsky, 2002, Inflammatory bowel disease, N Engl J Med, 347, 417, 10.1056/NEJMra020831 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls, Nature, 447, 661, 10.1038/nature05911 Cho, 2008, The genetics and immunopathogenesis of inflammatory bowel disease, Nat Rev Immunol, 8, 458, 10.1038/nri2340 Duerr, 2006, A genome-wide association study identifies IL23R as an inflammatory bowel disease gene, Science, 314, 1461, 10.1126/science.1135245 Imielinski, 2009, Common variants at five new loci associated with early-onset inflammatory bowel disease, Nat Genet, 41, 1335, 10.1038/ng.489 Kugathasan, 2008, Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease, Nat Genet, 40, 1211, 10.1038/ng.203 Mathew, 2008, New links to the pathogenesis of Crohn disease provided by genome-wide association scans, Nat Rev Genet, 9, 9, 10.1038/nrg2203 Xavier, 2007, Unravelling the pathogenesis of inflammatory bowel disease, Nature, 448, 427, 10.1038/nature06005 Van Limbergen, 2008, Definition of phenotypic characteristics of childhood-onset inflammatory bowel disease, Gastroenterology, 135, 1114, 10.1053/j.gastro.2008.06.081 Vernier-Massouille, 2008, Natural history of pediatric Crohn's disease: a population-based cohort study, Gastroenterology, 135, 1106, 10.1053/j.gastro.2008.06.079 Glocker, 2009, Inflammatory bowel disease and mutations affecting the interleukin-10 receptor, N Engl J Med, 361, 2033, 10.1056/NEJMoa0907206 Glocker, 2010, Infant colitis—it's in the genes, Lancet, 376, 1272, 10.1016/S0140-6736(10)61008-2 Moore, 2001, Interleukin-10 and the interleukin-10 receptor, Annu Rev Immunol, 19, 683, 10.1146/annurev.immunol.19.1.683 Pestka, 2004, Interleukin-10 and related cytokines and receptors, Annu Rev Immunol, 22, 929, 10.1146/annurev.immunol.22.012703.104622 Levine, 2011, Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification, Inflamm Bowel Dis, 17, 1314, 10.1002/ibd.21493 Ramensky, 2002, Human non-synonymous SNPs: server and survey, Nucleic Acids Res, 30, 3894, 10.1093/nar/gkf493 Ng, 2002, Accounting for human polymorphisms predicted to affect protein function, Genome Res, 12, 436, 10.1101/gr.212802 de Bie, 2012, Diagnostic workup of paediatric patients with inflammatory bowel disease in Europe: results of a 5-year audit of the EUROKIDS Registry, J Pediatr Gastroenterol Nutr, 54, 374, 10.1097/MPG.0b013e318231d984 Pachlopnik Schmid, 2011, 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, 117, 1522, 10.1182/blood-2010-07-298372 Worthey, 2011, Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease, Genet Med, 13, 255, 10.1097/GIM.0b013e3182088158 Freudenberg, 2010, Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease, J Allergy Clin Immunol, 125, 943, 10.1016/j.jaci.2010.01.035 Conley, 2012, Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K, J Exp Med, 209, 463, 10.1084/jem.20112533 Van Assche, 2010, The second European evidence-based Consensus on the diagnosis and management of Crohn's disease: special situations, J Crohns Colitis, 4, 63, 10.1016/j.crohns.2009.09.009 Anumakonda, 2007, Remission and relapse of Crohn's disease following autologous haematopoietic stem cell transplantation for non-Hodgkin's lymphoma, Gut, 56, 1325, 10.1136/gut.2006.111377 Cassinotti, 2008, Autologous haematopoietic stem cell transplantation without CD34+ cell selection in refractory Crohn's disease, Gut, 57, 211, 10.1136/gut.2007.128694 Ditschkowski, 2003, Improvement of inflammatory bowel disease after allogeneic stem-cell transplantation, Transplantation, 75, 1745, 10.1097/01.TP.0000062540.29757.E9 Drakos, 1993, Case of Crohn's disease in bone marrow transplantation, Am J Hematol, 43, 157, 10.1002/ajh.2830430223 Kashyap, 1998, Autologous bone marrow transplantation for non-Hodgkin's lymphoma resulting in long-term remission of coincidental Crohn's disease, Br J Haematol, 103, 651, 10.1046/j.1365-2141.1998.01059.x Kreisel, 2003, Complete remission of Crohn's disease after high-dose cyclophosphamide and autologous stem cell transplantation, Bone Marrow Transplant, 32, 337, 10.1038/sj.bmt.1704134 Lopez-Cubero, 1998, Course of Crohn's disease after allogeneic marrow transplantation, Gastroenterology, 114, 433, 10.1016/S0016-5085(98)70525-6 Musso, 2000, Crohn's disease complicated by relapsed extranodal Hodgkin's lymphoma: prolonged complete remission after unmanipulated PBPC autotransplant, Bone Marrow Transplant, 26, 921, 10.1038/sj.bmt.1702621 Oyama, 2005, Autologous hematopoietic stem cell transplantation in patients with refractory Crohn's disease, Gastroenterology, 128, 552, 10.1053/j.gastro.2004.11.051 Scime, 2004, Complete clinical remission after high-dose immune suppression and autologous hematopoietic stem cell transplantation in severe Crohn's disease refractory to immunosuppressive and immunomodulator therapy, Inflamm Bowel Dis, 10, 892, 10.1097/00054725-200411000-00027 Soderholm, 2002, Long-term endoscopic remission of crohn disease after autologous stem cell transplantation for acute myeloid leukaemia, Scand J Gastroenterol, 37, 613, 10.1080/00365520252903198 Talbot, 1998, Remission of Crohn's disease following allogeneic bone marrow transplant for acute leukaemia, Hosp Med, 59, 580 Thapar, 2008, Treatment of intractable ulcerating enterocolitis of infancy by allogeneic bone marrow transplantation, Clin Gastroenterol Hepatol, 6, 248, 10.1016/j.cgh.2007.11.019 Brandl, 2010, MyD88 signaling in nonhematopoietic cells protects mice against induced colitis by regulating specific EGF receptor ligands, Proc Natl Acad Sci U S A, 107, 19967, 10.1073/pnas.1014669107 Ferrara, 2009, Graft-versus-host disease, Lancet, 373, 1550, 10.1016/S0140-6736(09)60237-3