Defining combined immunodeficiency
Tài liệu tham khảo
Arpaia, 1994, Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinase, Cell, 76, 947, 10.1016/0092-8674(94)90368-9
Sharfe, 1997, Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor, Proc Natl Acad Sci U S A, 94, 3168, 10.1073/pnas.94.7.3168
Alarcon, 1988, Familial defect in the surface of expression of the T-cell receptor CD3 complex, N Engl J Med, 319, 1203, 10.1056/NEJM198811033191806
Sharfe, 1997, An interleukin-2 receptor γ chain mutation with normal thymus morphology, J Clin Invest, 100, 3036, 10.1172/JCI119858
Somech, 2005, Mutation analysis should be performed to rule out γc deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests, J Pediatr, 147, 555, 10.1016/j.jpeds.2005.05.010
Zhang, 2005, Novel RAG1 mutation in a case of severe combined immunodeficiency, Pediatrics, 116, e445, 10.1542/peds.2005-0369
Roifman, 2006, Mutations in the RNA component of Rnase MRP cause Omenn Syndrome, J Allergy Clin Immunol, 117, 897, 10.1016/j.jaci.2006.01.003
Notarangelo, 2000, Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency: defects of the gamma(c)-JAK3 signaling pathway as a model, Immunol Rev, 178, 39, 10.1034/j.1600-065X.2000.17812.x
De Ravin, 2010, Hypomorphic Rag mutations can cause destructive midline granulomatous disease, Blood, 116, 1263, 10.1182/blood-2010-02-267583
Newell, 2011, Ngan Bo-Yee, Grunebaum E, Roifman CM. Diffuse Large B cell Lymphoma as presenting feature of Zap-70 deficiency, J Allergy Clin Immunol, 127, 517, 10.1016/j.jaci.2010.09.016
Timón, 1993, Selective disbalances of peripheral blood T lymphocyte subsets in human CD3 gamma deficiency, Eur J Immunol, 23, 1440, 10.1002/eji.1830230706
Roifman, 2000, Human IL-2 receptor alpha chain deficiency, Pediatr Res, 48, 6, 10.1203/00006450-200007000-00004
Bennet, 2001, The Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, Nat Genet, 27, 20, 10.1038/83713
Roifman, 1989, Depletion of CD8+ cells in human thymic medulla results in selective immune deficiency, J Exp Med, 170, 2177, 10.1084/jem.170.6.2177
Chatila, 2000, JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation (sic) syndrome, J Clin Invest, 106, R75, 10.1172/JCI11679
Glocker, 2009, Inflammatory bowel disease and mutations affecting the interleukin-10 receptor, N Engl J Med, 361, 2033, 10.1056/NEJMoa0907206
Villa, 1998, Partial V(D)J recombination activity leads to Omenn syndrome, Cell, 93, 885, 10.1016/S0092-8674(00)81448-8
Ege, 2005, Omenn syndrome due to ARTEMIS mutations, Blood, 105, 4179, 10.1182/blood-2004-12-4861
Grunebaum, 2008, Omenn syndrome is associated with mutations in DNA Ligase IV, J Allergy Clin Immunol, 122, 1219, 10.1016/j.jaci.2008.08.031
Shibata, 2007, Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome like manifestations, Eur J Haematol, 79, 81, 10.1111/j.1600-0609.2007.00874.x
Giliani, 2006, Omenn syndrome in an infant with IL7RA gene mutation, J Pediatr, 148, 272, 10.1016/j.jpeds.2005.10.004
Roifman, 2008, Adenosine deaminase deficiency can present with features of Omenn syndrome, J Allergy Clin Immunol, 121, 1056, 10.1016/j.jaci.2007.12.1148
van der Burg, 2006, A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation, J Clin Invest, 116, 137, 10.1172/JCI26121
Roifman, 2010, Characterization of ζ-associated protein, 70kd (ZAP-70)-deficient human lymphocytes, J Allergy Clin Immunol, 126, 1226, 10.1016/j.jaci.2010.07.029
Felgentreff, 2011, Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency, Clin Immunol, 141, 73, 10.1016/j.clim.2011.05.007
Railey, 2009, Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis, J Pediatr, 155, 834, 10.1016/j.jpeds.2009.07.049
Korthauer, 1993, Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM, Nature, 361, 539, 10.1038/361539a0
Allen, 1993, CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome, Science, 259, 990, 10.1126/science.7679801