Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
暂无分享,去创建一个
J. Puchalka | C. Klein | S. Snapper | P. Järvinen | T. Kirchner | F. Hauck | S. Koletzko | Jörg Langemeier | J. Bohne | B. Belohradsky | A. Muise | D. Kotlarz | J. Diestelhorst | C. Prell | P. Bufler | M. Albert | D. Murugan | S. Schatz | S. Müller | Naschla Kohistani | M. Walter | Anne K. Klenk | Barbara Sciskala | Päivi M. Järvinen
[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.