Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

[1]  K. Schwarz,et al.  A new functional assay for the diagnosis of X‐linked inhibitor of apoptosis (XIAP) deficiency , 2014, Clinical and experimental immunology.

[2]  P. Rosenstiel,et al.  XIAP variants in male Crohn's disease , 2014, Gut.

[3]  S. Ehl,et al.  XIAP deficiency is a mendelian cause of late-onset IBD , 2013, Gut.

[4]  K. Schwarz,et al.  X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. , 2013, Clinical immunology.

[5]  Xing Huang,et al.  XIAP inhibits autophagy via XIAP‐Mdm2‐p53 signalling , 2013, The EMBO journal.

[6]  N. Mailand,et al.  Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling , 2013, EMBO molecular medicine.

[7]  A. Fischer,et al.  Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP. , 2013, Blood.

[8]  D. Lewinsohn,et al.  Co-dependents: MR1-restricted MAIT cells and their antimicrobial function , 2012, Nature Reviews Microbiology.

[9]  A. Strasser,et al.  The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. , 2012, Molecular cell.

[10]  A. Groth,et al.  H3K56me1 marks a spot for PCNA. , 2012, Molecular cell.

[11]  H. Kanegane,et al.  Clinical and Genetic Characteristics of XIAP Deficiency in Japan , 2012, Journal of Clinical Immunology.

[12]  C. Klein,et al.  IL‐10 and IL‐10 receptor defects in humans , 2011, Annals of the New York Academy of Sciences.

[13]  Joshua M. Korn,et al.  Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease , 2011, Nature Genetics.

[14]  Judy H. Cho,et al.  NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2 , 2011, Gut.

[15]  A. Fischer,et al.  Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. , 2011, Blood.

[16]  Tomohiro Watanabe,et al.  NOD2, an Intracellular Innate Immune Sensor Involved in Host Defense and Crohn's Disease , 2011, Mucosal Immunology.

[17]  R. Xavier,et al.  Genetics and pathogenesis of inflammatory bowel disease , 2011, Nature.

[18]  David P Bick,et al.  Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease , 2011, Genetics in Medicine.

[19]  A. Fischer,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). , 2011, Blood.

[20]  A. Filipovich,et al.  Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. , 2010, Journal of immunological methods.

[21]  A. Schäffer,et al.  Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. , 2009, The New England journal of medicine.

[22]  T. Sweeting,et al.  Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease , 2009, The Journal of experimental medicine.

[23]  Laurent Abel,et al.  Revisiting Crohn's disease as a primary immunodeficiency of macrophages , 2009, The Journal of experimental medicine.

[24]  J. B. Garrison,et al.  XIAP mediates NOD signaling via interaction with RIP2 , 2009, Proceedings of the National Academy of Sciences.

[25]  M. Netea,et al.  A Crohn's disease–associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1 , 2009, Nature Immunology.

[26]  M. Novelli,et al.  Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease , 2009, The American Journal of Gastroenterology.

[27]  S. Shirasawa,et al.  Detachment-induced upregulation of XIAP and cIAP2 delays anoikis of intestinal epithelial cells , 2006, Oncogene.

[28]  F. Rieux-Laucat,et al.  XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome , 2006, Nature.

[29]  G. Salvesen,et al.  Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family , 2006, EMBO reports.

[30]  Clive M. Onnie,et al.  Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease , 2005, The Lancet.

[31]  L. Jacobs,et al.  Nucleotide-Binding Oligomerization Domain-2 Modulates Specific TLR Pathways for the Induction of Cytokine Release 1 , 2005, Journal of Immunology.

[32]  Judy H. Cho,et al.  Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. , 2004, Human molecular genetics.

[33]  Mourad Sahbatou,et al.  Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease , 2001, Nature.

[34]  Judy H. Cho,et al.  A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease , 2001, Nature.

[35]  L. del Peso,et al.  Nod1, an Apaf-1-like Activator of Caspase-9 and Nuclear Factor-κB* , 1999, The Journal of Biological Chemistry.

[36]  David C. Wilson,et al.  Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease , 2012, Nature.

[37]  D. Jewell,et al.  NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation , 2010, Nature Medicine.

[38]  D. Philpott,et al.  Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry , 2010, Nature Immunology.

[39]  C. Duckett,et al.  XIAP as a ubiquitin ligase in cellular signaling , 2010, Cell Death and Differentiation.

[40]  Tomohiro Watanabe,et al.  Signalling pathways and molecular interactions of NOD1 and NOD2 , 2006, Nature Reviews Immunology.