Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation

[1]  Michael P. Snyder,et al.  Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. , 2013, The Journal of allergy and clinical immunology.

[2]  A. Schäffer,et al.  Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome , 2013, The Journal of experimental medicine.

[3]  B. Hartmann,et al.  Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. , 2013, The Journal of allergy and clinical immunology.

[4]  P. Awadalla,et al.  Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia , 2013, Journal of Medical Genetics.

[5]  M. Silverberg,et al.  IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis , 2013, Inflammatory bowel diseases.

[6]  B. Nadel,et al.  A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. , 2012, Blood.

[7]  F. Deist,et al.  Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency , 2013, Journal of Clinical Immunology.

[8]  L. Luznik,et al.  Post-transplantation cyclophosphamide for tolerance induction in HLA-haploidentical bone marrow transplantation. , 2012, Seminars in oncology.

[9]  J. Puchalka,et al.  Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. , 2012, Gastroenterology.

[10]  Kevin W Eliceiri,et al.  NIH Image to ImageJ: 25 years of image analysis , 2012, Nature Methods.

[11]  M. C. Castiello,et al.  Autoimmunity in Wiskott–Aldrich Syndrome: An Unsolved Enigma , 2012, Front. Immun..

[12]  Jing Yang,et al.  Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease , 2012, Genes and Immunity.

[13]  E. Coustan-Smith,et al.  Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K , 2012, The Journal of experimental medicine.

[14]  F. Rieux-Laucat,et al.  Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease , 2011, The American Journal of Gastroenterology.

[15]  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.

[16]  E. Szigethy,et al.  Inflammatory bowel disease. , 2011, Pediatric clinics of North America.

[17]  N. Sebire,et al.  Infant colitis—it's in the genes , 2010, The Lancet.

[18]  U. Pannicke,et al.  Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency , 2010, Journal of Clinical Immunology.

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

[20]  E. Rogaev,et al.  Genotype Analysis Identifies the Cause of the “Royal Disease” , 2009, Science.

[21]  J. McCune,et al.  Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. , 2009, Clinical immunology.

[22]  M. Sternberg,et al.  Protein structure prediction on the Web: a case study using the Phyre server , 2009, Nature Protocols.

[23]  Judy H. Cho,et al.  The genetics and immunopathogenesis of inflammatory bowel disease , 2008, Nature Reviews Immunology.

[24]  M. Ashworth,et al.  Treatment of intractable ulcerating enterocolitis of infancy by allogeneic bone marrow transplantation. , 2008, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

[25]  Christopher G. Mathew,et al.  New links to the pathogenesis of Crohn disease provided by genome-wide association scans , 2008, Nature Reviews Genetics.

[26]  E. Mizoguchi,et al.  Inflammatory bowel disease, past, present and future: lessons from animal models , 2008, Journal of Gastroenterology.

[27]  E. Efremidou,et al.  Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature , 2007, Journal of medical case reports.

[28]  Simon C. Potter,et al.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.

[29]  A. Caudy,et al.  CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. , 2007, The Journal of allergy and clinical immunology.

[30]  O. Goulet,et al.  Characteristics of Inflammatory Bowel Disease With Onset During the First Year of Life , 2006, Journal of pediatric gastroenterology and nutrition.

[31]  R. Baldassano,et al.  Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. , 2005, The Journal of pediatrics.

[32]  A. Griffiths Specificities of inflammatory bowel disease in childhood. , 2004, Best practice & research. Clinical gastroenterology.

[33]  D. Cooper,et al.  The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences , 1992, Human Genetics.

[34]  N. Logsdon,et al.  Crystal structure of the IL-10/IL-10R1 complex reveals a shared receptor binding site. , 2001, Immunity.

[35]  T. Matsumoto,et al.  Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. , 2001, Inflammatory bowel diseases.

[36]  D. Goldblatt,et al.  Colitis in chronic granulomatous disease , 2001, Archives of disease in childhood.