Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

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 Begue, 2011, Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease, Am J Gastroenterol, 106, 1544, 10.1038/ajg.2011.112 Kotlarz, 2012, Loss of interleukin-10 signaling and infantile inflammatory bowel disease—implications for diagnosis and therapy, Gastroenterology, 143, 347, 10.1053/j.gastro.2012.04.045 Moran, 2012, IL-10R polymorphisms are associated with very-early-onset ulcerative colitis, Inflamm Bowel Dis Mao, 2012, Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease, Genes Immun, 13, 437, 10.1038/gene.2012.8 Glocker, 2009, A homozygous CARD9 mutation in a family with susceptibility to fungal infections, N Engl J Med, 361, 1727, 10.1056/NEJMoa0810719 Warnatz, 2008, Flowcytometric phenotyping of common variable immunodeficiency, Cytometry B Clin Cytom, 74, 261, 10.1002/cyto.b.20432 den Dunnen, 2000, Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum Mutat, 15, 7, 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N Renner, 2008, Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome, J Allergy Clin Immunol, 122, 181, 10.1016/j.jaci.2008.04.037 Comans-Bitter, 1997, Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations, J Pediatr, 130, 388, 10.1016/S0022-3476(97)70200-2 Thrasher, 2010, WASP: a key immunological multitasker, Nat Rev Immunol, 10, 182, 10.1038/nri2724 Cheng, 2009, Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome, Clin Immunol, 132, 124, 10.1016/j.clim.2009.03.514 Marks, 2009, Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease, Am J Gastroenterol, 104, 117, 10.1038/ajg.2008.72 Muise, 2012, NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2, Gut, 61, 1028, 10.1136/gutjnl-2011-300078 Marsh, 2010, XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease, Blood, 116, 1079, 10.1182/blood-2010-01-256099 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 Moraes-Vasconcelos, 2008, Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED, J Clin Immunol, 28, S11, 10.1007/s10875-008-9176-5 Torgerson, 2007, Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells, J Allergy Clin Immunol, 120, 744, 10.1016/j.jaci.2007.08.044 Bogdan, 1991, Macrophage deactivation by interleukin 10, J Exp Med, 174, 1549, 10.1084/jem.174.6.1549 Moore, 2001, Interleukin-10 and the interleukin-10 receptor, Annu Rev Immunol, 19, 683, 10.1146/annurev.immunol.19.1.683 Donnelly, 1999, The interleukin-10 signal transduction pathway and regulation of gene expression in mononuclear phagocytes, J Interferon Cytokine Res, 19, 563, 10.1089/107999099313695 O'Shea, 2008, Cytokine signaling modules in inflammatory responses, Immunity, 28, 477, 10.1016/j.immuni.2008.03.002 Wolk, 2006, Interleukin-22: a novel T- and NK-cell derived cytokine that regulates the biology of tissue cells, Cytokine Growth Factor Rev, 17, 367, 10.1016/j.cytogfr.2006.09.001 Commins, 2008, The extended IL-10 superfamily: IL-10, IL-19, IL-20, IL-22, IL-24, IL-26, IL-28, and IL-29, J Allergy Clin Immunol, 121, 1108, 10.1016/j.jaci.2008.02.026 Donnelly, 2004, The expanded family of class II cytokines that share the IL-10 receptor-2 (IL-10R2) chain, J Leukoc Biol, 76, 314, 10.1189/jlb.0204117 Kotenko, 2003, IFN-λs mediate antiviral protection through a distinct class II cytokine receptor complex, Nat Immunol, 4, 69, 10.1038/ni875