Defining combined immunodeficiency

Journal of Allergy and Clinical Immunology - Tập 130 - Trang 177-183 - 2012
Chaim M. Roifman1,2, Raz Somech3, Fotini Kavadas4, Linda Pires1,2, Amit Nahum2,5, Ilan Dalal2,6, Eyal Grunebaum1,2
1Division of Immunology and Allergy, the Canadian Centre for Primary Immunodeficiency, the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
2Canada Israel Immunodeficiency Research Alliance, Toronto, Ontario, Canada
3Chaim Sheba Medical Center, Tel Aviv University, Tel HaShomer, Israel
4Alberta Children's Hospital, Calgary, Alberta, Canada
5Kaplan Medical Center, Hebrew University, Rehovot, Israel
6Edith Wolfson Medical Center, Tel Aviv University, Holon, Israel

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