X-linked primary immunodeficiencies as a bridge to better understandingX-chromosome related autoimmunity

Journal of Autoimmunity - Tập 33 - Trang 17-24 - 2009
Itai M. Pessach1,2, Luigi D. Notarangelo1,3
1Division of Immunology, Children's Hospital, Harvard Medical School, Boston, MA, USA
2The Talpiot Medical Leadership Program, Safra children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel
3The Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA, USA

Tài liệu tham khảo

Carneiro-Sampaio, 2007, Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies, Adv Immunol, 95, 51, 10.1016/S0065-2776(07)95002-6 Etzioni, 2003, Immune deficiency and autoimmunity, Autoimmun Rev, 2, 364, 10.1016/S1568-9972(03)00052-1 Notarangelo, 2006, Immunodeficiencies with autoimmune consequences, Adv Immunol, 89, 321, 10.1016/S0065-2776(05)89008-X 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 Powell, 1982, An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy, J Pediatr, 100, 731, 10.1016/S0022-3476(82)80573-8 Ochs, 2005, FOXP3 acts as a rheostat of the immune response, Immunol Rev, 203, 156, 10.1111/j.0105-2896.2005.00231.x Bindl, 2005, Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome), J Pediatr, 147, 256, 10.1016/j.jpeds.2005.04.017 Mazzolari, 2005, A new case of IPEX receiving bone marrow transplantation, Bone Marrow Transplant, 35, 1033, 10.1038/sj.bmt.1704954 Rao, 2007, Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning, Blood, 109, 383, 10.1182/blood-2006-05-025072 Torgerson, 2007, Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene, Gastroenterology, 132, 1705, 10.1053/j.gastro.2007.02.044 Marquis, 2002, Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes, J Med Genet, 39, 370, 10.1136/jmg.39.5.370 Owen, 2003, Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome, J Clin Endocrinol Metab, 88, 6034, 10.1210/jc.2003-031080 Caudy, 2007, CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes, J Allergy Clin Immunol, 119, 482, 10.1016/j.jaci.2006.10.007 Lyon, 1990, The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott–Aldrich syndrome, Proc Natl Acad Sci U S A, 87, 2433, 10.1073/pnas.87.7.2433 Chatila, 2000, JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome, J Clin Invest, 106, R75, 10.1172/JCI11679 Brunkow, 2001, Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse, Nat Genet, 27, 68, 10.1038/83784 Godfrey, 1991, Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: potential model for thymic education, Proc Natl Acad Sci U S A, 88, 5528, 10.1073/pnas.88.13.5528 Fontenot, 2003, Foxp3 programs the development and function of CD4+CD25+ regulatory T cells, Nat Immunol, 4, 330, 10.1038/ni904 Khattri, 2001, The amount of scurfin protein determines peripheral T cell number and responsiveness, J Immunol, 167, 6312, 10.4049/jimmunol.167.11.6312 Sakaguchi, 2008, Regulatory T cells and immune tolerance, Cell, 133, 775, 10.1016/j.cell.2008.05.009 Nieves, 2004, Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, Arch Dermatol, 140, 466, 10.1001/archderm.140.4.466 Tang, 2006, Regulatory T-cell physiology and application to treat autoimmunity, Immunol Rev, 212, 217, 10.1111/j.0105-2896.2006.00421.x Bruton, 1952, Agammaglobulinemia, Pediatrics, 9, 722 Winkelstein, 2006, X-linked agammaglobulinemia: report on a United States registry of 201 patients, Medicine (Baltimore), 85, 193, 10.1097/01.md.0000229482.27398.ad Tsukada, 1993, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia, Cell, 72, 279, 10.1016/0092-8674(93)90667-F Vetrie, 1993, The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases, Nature, 361, 226, 10.1038/361226a0 Conley, 2002, Clinical findings leading to the diagnosis of X-linked agammaglobulinemia, J Pediatr, 141, 566, 10.1067/mpd.2002.127711 Howard, 2006, The health status and quality of life of adults with X-linked agammaglobulinemia, Clin Immunol, 118, 201, 10.1016/j.clim.2005.11.002 Hunter, 2008, Eczema and X-linked agammaglobulinaemia, Clin Exp Dermatol, 33, 148, 10.1111/j.1365-2230.2007.02582.x Ochs, 2004, X-linked immunodeficiencies, Curr Allergy Asthma Rep, 4, 339, 10.1007/s11882-004-0082-5 Verbruggen, 2005, X linked agammaglobulinaemia and rheumatoid arthritis, Ann Rheum Dis, 64, 1075, 10.1136/ard.2004.030049 Yong, 2008, Selective deficits in blood dendritic cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia but not specific polysaccharide antibody deficiency, Clin Immunol, 127, 34, 10.1016/j.clim.2007.12.007 Lee, 2008, Bruton's tyrosine kinase separately regulates NFkappaB p65RelA activation and cytokine interleukin (IL)-10/IL-12 production in TLR9-stimulated B Cells, J Biol Chem, 283, 11189, 10.1074/jbc.M708516200 Knight, 2006, Inflammatory and autoimmune complications of common variable immune deficiency, Autoimmun Rev, 5, 156, 10.1016/j.autrev.2005.10.002 Roifman, 1986, Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia, Am J Med, 80, 590, 10.1016/0002-9343(86)90812-0 Notarangelo, 2006, Defects of class-switch recombination, J Allergy Clin Immunol, 117, 855, 10.1016/j.jaci.2006.01.043 Gulino, 2003, Hyper IgM syndromes, Curr Opin Rheumatol, 15, 422, 10.1097/00002281-200307000-00009 Notarangelo, 2000, X-linked immunodeficiency with hyper-IgM (XHIM), Clin Exp Immunol, 120, 399, 10.1046/j.1365-2249.2000.01142.x Ameratunga, 1997, Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome, J Pediatr, 131, 147, 10.1016/S0022-3476(97)70139-2 Fontana, 2003, Functional defects of dendritic cells in patients with CD40 deficiency, Blood, 102, 4099, 10.1182/blood-2003-04-1244 Jain, 1999, Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome, J Clin Invest, 103, 1151, 10.1172/JCI5891 Levy, 1997, Clinical spectrum of X-linked hyper-IgM syndrome, J Pediatr, 131, 47, 10.1016/S0022-3476(97)70123-9 Hayward, 1997, Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM, J Immunol, 158, 977 Lougaris, 2005, Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features, Immunol Rev, 203, 48, 10.1111/j.0105-2896.2005.00229.x Kumanogoh, 2001, Increased T cell autoreactivity in the absence of CD40–CD40 ligand interactions: a role of CD40 in regulatory T cell development, J Immunol, 166, 353, 10.4049/jimmunol.166.1.353 White, 2008, Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input, Eur J Immunol, 38, 942, 10.1002/eji.200738052 Herve, 2007, CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance, J Exp Med, 204, 1583, 10.1084/jem.20062287 Jain, 2001, Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia, Nat Immunol, 2, 223, 10.1038/85277 Zonana, 2000, A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO), Am J Hum Genet, 67, 1555, 10.1086/316914 Orange, 2005, Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation, Immunol Rev, 203, 21, 10.1111/j.0105-2896.2005.00221.x Jesus, 2008, Autoimmunity in hyper-IgM syndrome, J Clin Immunol, 28, 62, 10.1007/s10875-008-9171-x Friedrichs, 2008, The Crohn's disease susceptibility gene DLG5 as a member of the CARD interaction network, J Mol Med, 86, 423, 10.1007/s00109-008-0307-5 Girardin, 2003, Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection, J Biol Chem, 278, 8869, 10.1074/jbc.C200651200 Toubi, 2004, Toll-like receptors and their role in the development of autoimmune diseases, Autoimmunity, 37, 183, 10.1080/08916930410001704944 Zhang, 2006, NF-kappaB2 is required for the control of autoimmunity by regulating the development of medullary thymic epithelial cells, J Biol Chem, 281, 38617, 10.1074/jbc.M606705200 Zhu, 2006, NF-kappaB2 is required for the establishment of central tolerance through an Aire-dependent pathway, J Clin Invest, 116, 2964, 10.1172/JCI28326 Goldblatt, 2000, Chronic granulomatous disease, Clin Exp Immunol, 122, 1, 10.1046/j.1365-2249.2000.01314.x Rosenzweig, 2004, Phagocyte immunodeficiencies and their infections, J Allergy Clin Immunol, 113, 620, 10.1016/j.jaci.2004.02.001 Winkelstein, 2000, Chronic granulomatous disease. Report on a national registry of 368 patients, Medicine (Baltimore), 79, 155, 10.1097/00005792-200005000-00003 Goldblatt, 2002, Current treatment options for chronic granulomatous disease, Expert Opin Pharmacother, 3, 857, 10.1517/14656566.3.7.857 Reeves, 2002, Killing activity of neutrophils is mediated through activation of proteases by K+ flux, Nature, 416, 291, 10.1038/416291a Bylund, 2007, Enhanced inflammatory responses of chronic granulomatous disease leukocytes involve ROS-independent activation of NF-kappa B, Eur J Immunol, 37, 1087, 10.1002/eji.200636651 Jackson, 2004, T cells express a phagocyte-type NADPH oxidase that is activated after T cell receptor stimulation, Nat Immunol, 5, 818, 10.1038/ni1096 Bleesing, 2006, Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment, J Immunol, 176, 7096, 10.4049/jimmunol.176.11.7096 George-Chandy, 2008, Th17 development and autoimmune arthritis in the absence of reactive oxygen species, Eur J Immunol, 38, 1118, 10.1002/eji.200737348 Sanford, 2006, Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus, Rheumatology (Oxford), 45, 178, 10.1093/rheumatology/kei135 De Ravin, 2006, Sarcoidosis in chronic granulomatous disease, Pediatrics, 117, e590, 10.1542/peds.2005-1349 Marciano, 2004, Gastrointestinal involvement in chronic granulomatous disease, Pediatrics, 114, 462, 10.1542/peds.114.2.462 Lee, 1994, Polyarthritis resembling juvenile rheumatoid arthritis in a girl with chronic granulomatous disease, Arthritis Rheum, 37, 773, 10.1002/art.1780370524 Cale, 2007, Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology, Clin Exp Immunol, 148, 79, 10.1111/j.1365-2249.2007.03321.x Yamazaki-Nakashimada, 2008, Chronic granulomatous disease associated with atypical Kawasaki disease, Pediatr Cardiol, 29, 169, 10.1007/s00246-007-9011-4 Schäppi, 2008, Hyperinflammation in chronic granulomatous disease and anti-inflammatory role of the phagocyte NADPH oxidase, Semin Immunopathol, 30, 255, 10.1007/s00281-008-0119-2 Notarangelo, 2008, Wiskott–Aldrich syndrome, Curr Opin Hematol, 15, 30, 10.1097/MOH.0b013e3282f30448 Ochs, 2006, The Wiskott–Aldrich syndrome, J Allergy Clin Immunol, 117, 725, 10.1016/j.jaci.2006.02.005 Sullivan, 1994, A multiinstitutional survey of the Wiskott–Aldrich syndrome, J Pediatr, 125, 876, 10.1016/S0022-3476(05)82002-5 Ozsahin, 2008, Long-term outcome following hematopoietic stem-cell transplantation in Wiskott–Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for blood and marrow transplantation, Blood, 111, 439, 10.1182/blood-2007-03-076679 Villa, 1995, X-linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene, Nat Genet, 9, 414, 10.1038/ng0495-414 Jin, 2004, Mutations of the Wiskott–Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation, Blood, 104, 4010, 10.1182/blood-2003-05-1592 Adriani, 2007, Impaired in vitro regulatory T cell function associated with Wiskott–Aldrich syndrome, Clin Immunol, 124, 41, 10.1016/j.clim.2007.02.001 Takenawa, 2007, The WASP-WAVE protein network: connecting the membrane to the cytoskeleton, Nat Rev Mol Cell Biol, 8, 37, 10.1038/nrm2069 Dupuis-Girod, 2003, Autoimmunity in Wiskott–Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients, Pediatrics, 111, e622, 10.1542/peds.111.5.e622 Schurman, 2003, Autoimmunity in Wiskott–Aldrich syndrome, Curr Opin Rheumatol, 15, 446, 10.1097/00002281-200307000-00012 Nguyen, 2007, Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott–Aldrich syndrome protein, Gastroenterology, 133, 1188, 10.1053/j.gastro.2007.07.010 Humblet-Baron, 2007, Wiskott–Aldrich Syndrome Protein is required for regulatory T cell homeostasis, J Clin Invest, 117, 407, 10.1172/JCI29539 Maillard, 2007, The Wiskott–Aldrich Syndrome Protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells, J Exp Med, 204, 381, 10.1084/jem.20061338 Marangoni, 2007, WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells, J Exp Med, 204, 369, 10.1084/jem.20061334 Moretta, 2001, Cellular and molecular pathogenesis of X-linked lymphoproliferative disease, Curr Opin Allergy Clin Immunol, 1, 513, 10.1097/00130832-200112000-00004 Nichols, 2005, Molecular and cellular pathogenesis of X-linked lymphoproliferative disease, Immunol Rev, 203, 180, 10.1111/j.0105-2896.2005.00230.x Ma, 2007, Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules, Annu Rev Immunol, 25, 337, 10.1146/annurev.immunol.25.022106.141651 Sullivan, 1989, X-linked lymphoproliferative syndrome, Immunodefic Rev, 1, 325 Sullivan, 1983, X-linked lymphoproliferative syndrome. Natural history of the immunodeficiency, J Clin Invest, 71, 1765, 10.1172/JCI110932 Rigaud, 2006, XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome, Nature, 444, 110, 10.1038/nature05257 Veillette, 2007, Consequence of the SLAM-SAP signaling pathway in innate-like and conventional lymphocytes, Immunity, 27, 698, 10.1016/j.immuni.2007.11.005 Chaganti, 2008, Epstein-Barr virus persistence in the absence of conventional memory B cells: IgM+IgD+CD27+ B cells harbour the virus in X-linked lymphoproliferative disease patients, Blood, 10.1182/blood-2007-10-116269 Invernizzi, 2007, The X chromosome in female-predominant autoimmune diseases, Ann N Y Acad Sci, 1110, 57, 10.1196/annals.1423.007 Invernizzi, 2008, Skewing of X chromosome inactivation in autoimmunity, Autoimmunity, 41, 272, 10.1080/08916930802024574