The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside

World Allergy Organization Journal - Tập 5 - Trang 79-87 - 2012
Efren L. Rael1, Robert T. Marshall2, Jonathan J. McClain2
1Section of Allergy, Asthma and Immunology, Penn State, Milton S. Hershey Medical Center MCH0401, Hershey, PA
2Penn State, Milton S. Hershey Medical Center, School of Medicine, Hershey, PA.

Tài liệu tham khảo

Choi, 1996, Assignment of the acute phase response factor (APRF) gene to 17q21 by microdissection clone sequencing and fluorescence in situ hybridization of a P1 clone, Genomics, 37, 264, 10.1006/geno.1996.0556 Kisseleva, 2002, Signaling through the JAK/STAT pathway, recent advances and future challenges, Gene, 285, 1, 10.1016/S0378-1119(02)00398-0 Levy, 2002, Stats: transcriptional control and biological impact, Nat Rev Mol Cell Biol, 3, 651, 10.1038/nrm909 Wegrzyn, 2009, Function of mitochondrial Stat3 in cellular respiration, Science, 323, 793, 10.1126/science.1164551 Pelletier, 2003, Rho family GTPases are required for activation of Jak/STAT signaling by G protein coupled receptors, Mol Cell Biol, 23, 1316, 10.1128/MCB.23.4.1316-1333.2003 Heim, 2003, The STAT protein family, 11 Woellner, 2010, Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome, J Allergy Clin Immunol, 125, 424, 10.1016/j.jaci.2009.10.059 Mintz, 2010, Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients, Immunol Lett, 130, 97, 10.1016/j.imlet.2009.12.006 Rossi, 2000, The biology of chemokines and their receptors, Annu Rev Immunol, 18, 217, 10.1146/annurev.immunol.18.1.217 Zeilhofer, 2000, Role of interleukin-8 in neutrophil signaling, Curr Opin Hematol, 7, 178, 10.1097/00062752-200005000-00009 Mukaida, 2000, Interleukin-8: an expanding universe beyond neutrophil chemotaxis and activation, Int J Hematol, 72, 391 Baggiolini, 1995, Interleukin-8 and the chemokine family, Int J Immunopharmacol, 17, 103, 10.1016/0192-0561(94)00088-6 Murphy, 1997, Neutrophil receptors for interleukin-8 and related CXC chemokines, Semin Hematol, 34, 311 Chuntharapai, 1995, Regulation of the expression of IL-8 receptor A/B by IL-8: possible functions of each receptor, J Immunol, 155, 2587, 10.4049/jimmunol.155.5.2587 Richardson, 1998, Differential cross-regulation of the human chemokine receptors CXCR1 and CXCR2. Evidence for time-dependent signal generation, J Biol Chem, 273, 23830, 10.1074/jbc.273.37.23830 Green, 1996, Interleukin-8 (IL-8), melanoma growth-stimulatory activity, and neutrophil-activating peptide selectively mediate priming of the neutrophil NADPH oxidase through the type A or type B IL-8 receptor, J Biol Chem, 271, 25400, 10.1074/jbc.271.41.25400 Feniger-Barish, 2003, IL-8-induced migratory responses through CXCR1 and CXCR2: association with phosphorylation and cellular redistribution of focal adhesion kinase, Biochemistry, 42, 2874, 10.1021/bi026783d Feniger-Barish, 1999, Differential modes of regulation of cxc chemokine-induced internalization and recycling of human CXCR1 and CXCR2, Cytokine, 11, 996, 10.1006/cyto.1999.0510 Richardson, 1998, Multiple signaling pathways of human interleukin-8 receptor A. Independent regulation by phosphorylation, J Biol Chem, 273, 10690, 10.1074/jbc.273.17.10690 Hammond, 1995, IL-8 induces neutrophil chemotaxis predominantly via type I IL-8 receptors, J Immunol, 155, 1428, 10.4049/jimmunol.155.3.1428 Van Damme, 1997, Granulocyte chemotactic protein-2 and related CXC chemokines: from gene regulation to receptor usage, J Leukoc Biol, 62, 563, 10.1002/jlb.62.5.563 Zlotnik, 2006, The chemokine and chemokine receptor superfamilies and their molecular evolution, Genome Biol, 7, 243, 10.1186/gb-2006-7-12-243 Minegishi, 2009, Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome, J Exp Med, 206, 1291, 10.1084/jem.20082767 Conti, 2011, New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome, Mucosal Immunol, 4, 448, 10.1038/mi.2011.5 Siegel, 2011, A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory, Immunity, 35, 806, 10.1016/j.immuni.2011.09.016 Ozaki, 2002, A critical role for IL-21 in regulating immunoglobulin production, Science, 298, 1630, 10.1126/science.1077002 Wood, 2004, IL-21 effects on human IgE production in response to IL-4 or IL-13, Cell Immunol, 231, 133, 10.1016/j.cellimm.2005.01.001 Avery, 2010, B cellintrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans, J Exp Med, 207, 155, 10.1084/jem.20091706 Speckmann, 2008, Reduced memory B cells in patients with hyper IgE syndrome, Clin Immunol, 129, 448, 10.1016/j.clim.2008.08.002 Meyer-Bahlburg, 2012, Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation, J Allergy Clin Immunol, 129, 559, 10.1016/j.jaci.2011.09.017 Sekhsaria, 2011, Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome, J Allergy Clin Immunol, 128, 1124, 10.1016/j.jaci.2011.07.046 Zhou, 2011, Osteoblast/osteocyte-specific inactivation of Stat3 decreases load-driven bone formation and accumulates reactive oxygen species, Bone, 49, 404, 10.1016/j.bone.2011.04.020 Lufei, 2003, GRIM-19, a death-regulatory gene product, suppresses Stat3 activity via functional interaction, EMBO J, 22, 1325, 10.1093/emboj/cdg135 Griggs, 2008, Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities, Genomics, 91, 195, 10.1016/j.ygeno.2007.10.011 Zhang, 2010, Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome, Dis Markers, 29, 131, 10.1155/2010/972591 Raptis, 2011, The R(h)oads to Stat3: Stat3 activation by the Rho GTPases, Exp Cell Res, 317, 1787, 10.1016/j.yexcr.2011.05.008 Debidda, 2005, A role of STAT3 in Rho GTPase-regulated cell migration and proliferation, J Biol Chem, 280, 17275, 10.1074/jbc.M413187200 Faruqi, 2001, Rac1 mediates STAT3 activation by autocrine IL-6, Proc Natl Acad Sci USA, 98, 9014, 10.1073/pnas.161281298 Simon, 2000, Regulation of STAT3 by direct binding to the Rac1 GTPase, Science, 290, 144, 10.1126/science.290.5489.144 Engelhardt, 2009, Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome, J Allergy Clin Immunol, 124, 1289, 10.1016/j.jaci.2009.10.038 Cote, 2007, GEF what? Dock180 and related proteins help Rac to polarize cells in new ways, Trends Cell Biol, 17, 383, 10.1016/j.tcb.2007.05.001 Randall, 2011, DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice, J Exp Med, 208, 2305, 10.1084/jem.20110345 Zhang, 2009, Combined immunodeficiency associated with DOCK8 mutations, N Engl J Med, 361, 2046, 10.1056/NEJMoa0905506 Al Khatib, 2009, Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome, J Allergy Clin Immunol, 124, 342, 10.1016/j.jaci.2009.05.004 Lambe, 2011, DOCK8 is essential for T-cell survival and the maintenance of CD8(+) T-cell memory, Eur J Immunol, 41, 3423, 10.1002/eji.201141759 Randall, 2009, Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production, Nat Immunol, 10, 1283, 10.1038/ni.1820 Firmbach-Kraft, 1990, tyk2, prototype of a novel class of non-receptor tyrosine kinase genes, Oncogene, 5, 1329 Trask, 1993, Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers, Genomics, 15, 133, 10.1006/geno.1993.1021 Krolewski, 1990, Identification and chromosomal mapping of new human tyrosine kinase genes, Oncogene, 5, 277 Finbloom, 1995, IL-10 induces the tyrosine phosphorylation of tyk2 and Jak1 and the differential assembly of STAT1 alpha and STAT3 complexes in human T cells and monocytes, J Immunol, 155, 1079, 10.4049/jimmunol.155.3.1079 Ho, 1995, Functional regions of the mouse interleukin-10 receptor cytoplasmic domain, Mol Cell Biol, 15, 5043, 10.1128/MCB.15.9.5043 Kopantzev, 2002, IL-6 mediated activation of STAT3 bypasses Janus kinases in terminally differentiated B lineage cells, Oncogene, 21, 6791, 10.1038/sj.onc.1205815 Ihle, 1995, Jaks and Stats in signaling by the cytokine receptor superfamily, Trends Genet, 11, 69, 10.1016/S0168-9525(00)89000-9 Welham, 1995, Interleukin-13 signal transduction in lymphohemopoietic cells. Similarities and differences in signal transduction with interleukin-4 and insulin, J Biol Chem, 270, 12286, 10.1074/jbc.270.20.12286 Stahl, 1994, Association and activation of Jak-Tyk kinases by CNTF-LIF-OSM-IL-6 beta receptor components, Science, 263, 92, 10.1126/science.8272873 Narazaki, 1994, Activation of JAK2 kinase mediated by the interleukin 6 signal transducer gp130, Proc Natl Acad Sci USA, 91, 2285, 10.1073/pnas.91.6.2285 Du, 1997, Interleukin-11: review of molecular, cell biology, and clinical use, Blood, 89, 3897, 10.1182/blood.V89.11.3897 Trinchieri, 2003, The IL-12 family of heterodimeric cytokines: new players in the regulation of T cell responses, Immunity, 19, 641, 10.1016/S1074-7613(03)00296-6 Chishti, 1998, The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane, Trends Biochem Sci, 23, 281, 10.1016/S0968-0004(98)01237-7 Pearson, 2000, Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain, Cell, 101, 259, 10.1016/S0092-8674(00)80836-3 Marengere, 1994, Structure and function of SH2 domains, J Cell Sci Suppl, 18, 97, 10.1242/jcs.1994.Supplement_18.14 Pawson, 1995, Protein modules and signalling networks, Nature, 373, 573, 10.1038/373573a0 Mayer, 1993, Signalling through SH2 and SH3 domains, Trends Cell Biol, 3, 8, 10.1016/0962-8924(93)90194-6 Pawson, 1993, SH2 and SH3 domains, Curr Biol, 3, 434, 10.1016/0960-9822(93)90350-W Manning, 2002, Evolution of protein kinase signaling from yeast to man, Trends Biochem Sci, 27, 514, 10.1016/S0968-0004(02)02179-5 Minegishi, 2006, Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity, Immunity, 25, 745, 10.1016/j.immuni.2006.09.009 Ishizaki, 2011, Involvement of tyrosine kinase-2 in both the IL-12/Th1 and IL-23/Th17 axes in vivo, J Immunol, 187, 181, 10.4049/jimmunol.1003244 Freeman, 2009, Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations, Oral Dis, 15, 2, 10.1111/j.1601-0825.2008.01463.x Freeman, 2009, Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes, Pediatr Res, 65, 32R, 10.1203/PDR.0b013e31819dc8c5 Vinh, 2010, Invasive fungal disease in autosomal-dominant hyper-IgE syndrome, J Allergy Clin Immunol, 125, 1389, 10.1016/j.jaci.2010.01.047 Melia, 2009, Pulmonary nontuberculous mycobacterial infections in hyper-IgE syndrome, J Allergy Clin Immunol, 124, 617, 10.1016/j.jaci.2009.07.007 Ma, 2009, Recurrent hemoptysis with Penicillium marneffei and Stenotrophomonas maltophilia in Job's syndrome, Can Respir J, 16, e50, 10.1155/2009/586919 Netea, 2002, Th1/Th2 cytokine imbalance in a family with hyper-IgE syndrome, Neth J Med, 60, 349 Yavuz, 2010, A review on the vascular features of the hyperimmunoglobulin E syndrome, Clin Exp Immunol, 159, 238, 10.1111/j.1365-2249.2009.04044.x Freeman, 2011, Coronary artery abnormalities in hyper-IgE syndrome, J Clin Immunol, 31, 338, 10.1007/s10875-011-9515-9 Gharib, 2009, Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography, AJR Am J Roentgenol, 193, W478, 10.2214/AJR.09.2623 Stover, 2010, Diverticulitis in a young man with hyper-IgE syndrome, South Med J, 103, 1261, 10.1097/SMJ.0b013e3181fa5f0e Chen, 1995, Colon perforation in a patient with hyperimmunoglobulin E (Job's) syndrome, J Pediatr Surg, 30, 1479, 10.1016/0022-3468(95)90412-3 Hwang, 1998, Colon perforation in hyperimmunoglobulin E syndrome, J Pediatr Surg, 33, 1420, 10.1016/S0022-3468(98)90025-2 Steiner, 2009, Ileocecal histoplasmosis simulating Crohn disease in a patient with hyperimmunoglobulin E syndrome, Pediatr Infect Dis J, 28, 744, 10.1097/INF.0b013e31819b65e0 Cappell, 1991, Recurrent colonic histoplasmosis after standard therapy with amphotericin B in a patient with Job's syndrome, Am J Gastroenterol, 86, 119 Leonard, 2004, Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review, Leuk Lymphoma, 45, 2521, 10.1080/10428190400004463 Kumanovics, 2010, Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation, J Clin Immunol, 30, 886, 10.1007/s10875-010-9452-z Belada, 2010, Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: successful treatment with risk-adapted rituximab-based immunochemotherapy, Leuk Res, 34, e232, 10.1016/j.leukres.2010.01.024 Renner, 2004, Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity, J Pediatr, 144, 93, 10.1016/S0022-3476(03)00449-9 Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, Casanova JL. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr. 2012; [Published ahead of print March 6, 2012]. Grimbacher, 1999, Genetic linkage of hyper-IgE syndrome to chromosome 4, Am J Hum Genet, 65, 735, 10.1086/302547 Schimke, 2010, Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis, J Allergy Clin Immunol, 126, 611, 10.1016/j.jaci.2010.06.029 Heimall, 2011, Paucity of genotype-phenotype correlations in STAT3 mutation positive hyper IgE syndrome (HIES), Clin Immunol, 139, 75, 10.1016/j.clim.2011.01.001 Ochs HD, Smith CIE, Puck J Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York, NY: Oxford University Press; 2007. Kumanovics, 2010, Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases, J Mol Diagn, 12, 213, 10.2353/jmoldx.2010.090080 Dasouki, 2011, Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening, Clin Immunol, 141, 128, 10.1016/j.clim.2011.06.003 Freeman, 2008, The hyper-IgE syndromes, Immunol Allergy Clin North Am, 28, 277, 10.1016/j.iac.2008.01.005 Freeman, 2010, Clinical manifestations of hyper IgE syndromes, Dis Markers, 29, 123, 10.1155/2010/580197 Bittner, 2010, Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation, Klin Padiatr, 222, 351, 10.1055/s-0030-1265135 McDonald, 2010, Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency, J Allergy Clin Immunol, 126, 1304, 10.1016/j.jaci.2010.07.034 Gatz, 2011, Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation, Bone Marrow Transplant, 46, 552, 10.1038/bmt.2010.169 Gennery, 2000, Bone marrow transplantation does not correct the hyper IgE syndrome, Bone Marrow Transplant, 25, 1303, 10.1038/sj.bmt.1702446