The hyper-ige syndromes: Lessons in nature, from bench to bedside

World Allergy Organization Journal

Volumn 5, Issue 7, 2012, Pages 79-87

  Rael, Efren L ^a   Marshall, Robert T ^a   McClain, Jonathan J ^a  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

Author keywords

DOCK8; Hyper IgE syndrome; Immunodeficiency; Job syndrome; STAT3; TH17; TYK2

Indexed keywords

ANTIBIOTIC AGENT; CHROMOSOME PROTEIN; DEDICATOR OF CYTOKINESIS 8; IMMUNOGLOBULIN E; JANUS KINASE 2; STAT3 PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; BACTERIAL INFECTION; CARCINOGENESIS; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONNECTIVE TISSUE; DIFFERENTIAL DIAGNOSIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; LUNG INFECTION; NEUTROPHIL; PRIORITY JOURNAL; REVIEW; SKIN INFECTION; STAPHYLOCOCCUS INFECTION; TH17 CELL; VASCULAR DISEASE;

EID: 84866091369     PISSN: 19394551     EISSN: None     Source Type: Journal    
DOI: 10.1097/WOX.0b013e31825a73b2     Document Type: Review

References (98)

1. Choi JY, Li WL, Kouri RE, Yu J, Kao FT, Ruano G. 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. 1996;37:264-265. (Pubitemid 26360906)
2. Kisseleva T, Bhattacharya S, Braunstein J, Schindler CW. Signaling through the JAK/STAT pathway, recent advances and future challenges. Gene. 2002;285:1-24. (Pubitemid 34246317)
3. Levy DE, Darnell JE Jr. Stats: Transcriptional control and biological impact. Nat Rev Mol Cell Biol. 2002;3:651-662. (Pubitemid 34987786)
4. Wegrzyn J, Potla R, Chwae YJ, Sepuri NBV, Zhang Q, et al. Function of mitochondrial Stat3 in cellular respiration. Science. 2009;323:793-797.
5. Pelletier S, Duhamel F, Coulombe P, Popoff MR, Meloche S. Rho family GTPases are required for activation of Jak/STAT signaling by G proteincoupled receptors. Mol Cell Biol. 2003;23:1316-1333. (Pubitemid 36177040)
6. Heim MH. The STAT protein family. In: Sehgal PB, Levy DE, Hirano T, eds. Signal Transducers and Activators of Transcription (STATs). Activation and Biology. Dordrecht, The Netherlands: Kluwer Academic Publishers; 2003:11-26.
7. Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125:424-432 e428.
8. Mintz R, Garty BZ, Meshel T, Marcus N, Katanov C, Cohen-Hillel E, Ben-Baruch A. Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. Immunol Lett. 2010;130:97-106.
9. Rossi D, Zlotnik A. The biology of chemokines and their receptors. Annu Rev Immunol. 2000;18:217-242.
10. Zeilhofer HU, Schorr W. Role of interleukin-8 in neutrophil signaling. Curr Opin Hematol. 2000;7:178-182. (Pubitemid 30213152)
11. Mukaida N. Interleukin-8: An expanding universe beyond neutrophil chemotaxis and activation. Int J Hematol. 2000;72:391-398.
12. Baggiolini M, Loetscher P, Moser B. Interleukin-8 and the chemokine family. Int J Immunopharmacol. 1995;17:103-108.
13. Murphy PM. Neutrophil receptors for interleukin-8 and related CXC chemokines. Semin Hematol. 1997;34:311-318. (Pubitemid 27444133)
14. Chuntharapai A, Kim KJ. Regulation of the expression of IL-8 receptor A/B by IL-8: Possible functions of each receptor. J Immunol. 1995;155:2587-2594.
15. Richardson RM, Pridgen BC, Haribabu B, Ali H, Snyderman R. Differential cross-regulation of the human chemokine receptors CXCR1 and CXCR2. Evidence for time-dependent signal generation. J Biol Chem. 1998;273:23830-23836. (Pubitemid 28435718)
16. Green SP, Chuntharapai A, Curnutte JT. 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. 1996;271:25400-25405. (Pubitemid 26337911)
17. Feniger-Barish R, Yron I, Meshel T, Matityahu E, Ben-Baruch A. IL-8- induced migratory responses through CXCR1 and CXCR2: Association with phosphorylation and cellular redistribution of focal adhesion kinase. Biochemistry. 2003;42:2874-2886. (Pubitemid 36331531)
18. Feniger-Barish R, Ran M, Zaslaver A, Ben-Baruch A. Differential modes of regulation of cxc chemokine-induced internalization and recycling of human CXCR1 and CXCR2. Cytokine. 1999;11: 996-1009. (Pubitemid 30045339)
19. Richardson RM, Ali H, Pridgen BC, Haribabu B, Snyderman R. Multiple signaling pathways of human interleukin-8 receptor A. Independent regulation by phosphorylation. J Biol Chem. 1998;273: 10690-10695. (Pubitemid 28227683)
20. Hammond ME, Lapointe GR, Feucht PH, Hilt S, Gallegos CA, et al. IL-8 induces neutrophil chemotaxis predominantly via type I IL-8 receptors. J Immunol. 1995;155:1428-1433.
21. Van Damme J, Wuyts A, Froyen G, Van Coillie E, Struyf S, et al. Granulocyte chemotactic protein-2 and related CXC chemokines: From gene regulation to receptor usage. J Leukoc Biol. 1997;62:563-569. (Pubitemid 27519765)
22. Zlotnik A, Yoshie O, Nomiyama H. The chemokine and chemokine receptor superfamilies and their molecular evolution. Genome Biol. 2006;7:243.
23. Minegishi Y, Saito M, Nagasawa M, Takada H, Hara T, et al. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med. 2009;206:1291-1301.
24. Conti HR, Baker O, Freeman AF, Jang WS, Holland SM, et al. New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. Mucosal Immunol. 2011;4:448-455.
25. Siegel AM, Heimall J, Freeman AF, Hsu AP, Brittain E, et al. A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity. 2011;35:806-818.
26. Ozaki K, Spolski R, Feng GC, Qi CF, Cheng J, et al. A critical role for IL-21 in regulating immunoglobulin production. Science. 2002;298: 1630-1634. (Pubitemid 35387203)
27. Wood N, Bourque K, Donaldson DD, Collins M, Vercelli D, Goldman SJ, Kasaian MT. IL-21 effects on human IgE production in response to IL-4 or IL-13. Cell Immunol. 2004;231:133-145. (Pubitemid 40775612)
28. Avery DT, Deenick EK, Ma CS, Suryani S, Simpson N, et al. B cellintrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med. 2010;207:155-171.
29. Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, et al. Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol. 2008;129:448-454.
30. Meyer-Bahlburg A, Renner ED, Rylaarsdam S, Reichenbach J, Schimke LF, et al. Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. J Allergy Clin Immunol. 2012;129:559-562, 562 e551-552.
31. Sekhsaria V, Dodd LE, Hsu AP, Heimall JR, Freeman AF, et al. Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome. J Allergy Clin Immunol. 2011;128:1124-1127.
32. Zhou H, Newnum AB, Martin JR, Li P, Nelson MT, et al. Osteoblast/ osteocyte-specific inactivation of Stat3 decreases load-driven bone formation and accumulates reactive oxygen species. Bone. 2011;49:404-411.
33. Lufei C, Ma J, Huang G, Zhang T, Novotny-Diermayr V, Ong CT, Cao X. GRIM-19, a death-regulatory gene product, suppresses Stat3 activity via functional interaction. EMBO J. 2003;22:1325-1335. (Pubitemid 36362696)
34. Griggs BL, Ladd S, Saul RA, DuPont BR, Srivastava AK. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics. 2008;91:195-202.
35. Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers. 2010;29:131-139.
36. Raptis L, Arulanandam R, Geletu M, Turkson J. The R(h)oads to Stat3: Stat3 activation by the Rho GTPases. Exp Cell Res. 2011;317:1787-1795.
37. Debidda M, Wang L, Zang H, Poli V, Zheng Y. A role of STAT3 in Rho GTPase-regulated cell migration and proliferation. J Biol Chem. 2005;280:17275-17285. (Pubitemid 41389196)
38. Faruqi TR, Gomez D, Bustelo XR, Bar-Sagi D, Reich NC. Rac1 mediates STAT3 activation by autocrine IL-6. Proc Natl Acad Sci U S A. 2001;98:9014-9019. (Pubitemid 32743861)
39. Simon AR, Vikis HG, Stewart S, Fanburg BL, Cochran BH, Guan KL. Regulation of STAT3 by direct binding to the Rac1 GTPase. Science. 2000;290:144-147.
40. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, et al. 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. 2009;124:1289-1302 e1284.
41. Cote JF, Vuori K. GEF what? Dock180 and related proteins help Rac to polarize cells in new ways. Trends Cell Biol. 2007;17:383-393. (Pubitemid 47375099)
42. Randall KL, Chan SS, Ma CS, Fung I, Mei Y, et al. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. J Exp Med. 2011;208:2305-2320.
43. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361:2046-2055.
44. Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, et al. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol. 2009;124:342-348, 348 e341-345.
45. Lambe T, Crawford G, Johnson AL, Crockford TL, Bouriez-Jones T, et al. DOCK8 is essential for T-cell survival and the maintenance of CD8(1) T-cell memory. Eur J Immunol. 2011;41:3423-3535.
46. Randall KL, Lambe T, Johnson AL, Treanor B, Kucharska E, et al. Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nat Immunol. 2009;10: 1283-1291.
47. Firmbach-Kraft I, Byers M, Shows T, Dalla-Favera R, Krolewski JJ. tyk2, prototype of a novel class of non-receptor tyrosine kinase genes. Oncogene. 1990;5:1329-1336.
48. Trask B, Fertitta A, Christensen M, Youngblom J, Bergmann A, et al. Fluorescence in situ hybridization mapping of human chromosome 19: Cytogenetic band location of 540 cosmids and 70 genes or DNA markers. Genomics. 1993;15:133-145. (Pubitemid 23079582)
49. Krolewski JJ, Lee R, Eddy R, Shows TB, Dalla-Favera R. Identification and chromosomal mapping of new human tyrosine kinase genes. Oncogene. 1990;5:277-282.
50. Finbloom DS, Winestock KD. 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. 1995;155:1079-1090.
51. Ho AS, Wei SH, Mui AL, Miyajima A, Moore KW. Functional regions of the mouse interleukin-10 receptor cytoplasmic domain. Mol Cell Biol. 1995;15:5043-5053.
52. Kopantzev Y, Heller M, Swaminathan N, Rudikoff S. IL-6 mediated activation of STAT3 bypasses Janus kinases in terminally differentiated B lineage cells. Oncogene. 2002;21:6791-6800. (Pubitemid 35221921)
53. Ihle JN, Kerr IM. Jaks and Stats in signaling by the cytokine receptor superfamily. Trends Genet. 1995;11:69-74.
54. Welham MJ, Learmonth L, Bone H, Schrader JW. Interleukin-13 signal transduction in lymphohemopoietic cells. Similarities and differences in signal transduction with interleukin-4 and insulin. J Biol Chem. 1995;270:12286-12296.
55. Stahl N, Boulton TG, Farruggella T, Ip NY, Davis S, et al. Association and activation of Jak-Tyk kinases by CNTF-LIF-OSM-IL-6 beta receptor components. Science. 1994;263:92-95. (Pubitemid 24076263)
56. Narazaki M, Witthuhn BA, Yoshida K, Silvennoinen O, Yasukawa K, et al. Activation of JAK2 kinase mediated by the interleukin 6 signal transducer gp130. Proc Natl Acad Sci U S A. 1994;91:2285-2289. (Pubitemid 24092088)
57. Du X, Williams DA. Interleukin-11: Review of molecular, cell biology, and clinical use. Blood. 1997;89:3897-3908. (Pubitemid 27220932)
58. Trinchieri G, Pflanz S, Kastelein RA. The IL-12 family of heterodimeric cytokines: New players in the regulation of T cell responses. Immunity. 2003;19:641-644. (Pubitemid 37490789)
59. Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, et al. The FERM domain: A unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci. 1998;23:281-282. (Pubitemid 28461889)
60. Pearson MA, Reczek D, Bretscher A, Karplus PA. Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain. Cell. 2000;101:259-270.
61. Marengere LE, Pawson T. Structure and function of SH2 domains. J Cell Sci Suppl. 1994;18:97-104.
62. Pawson T. Protein modules and signalling networks. Nature. 1995;373: 573-580.
63. Mayer BJ, Baltimore D. Signalling through SH2 and SH3 domains. Trends Cell Biol. 1993;3:8-13. (Pubitemid 23006050)
64. Pawson T, Schlessingert J. SH2 and SH3 domains. Curr Biol. 1993;3:434-442.
65. Manning G, Plowman GD, Hunter T, Sudarsanam S. Evolution of protein kinase signaling from yeast to man. Trends Biochem Sci. 2002;27:514-520. (Pubitemid 35279596)
66. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25:745-755. (Pubitemid 46131400)
67. Ishizaki M, Akimoto T, Muromoto R, Yokoyama M, Ohshiro Y, et al. Involvement of tyrosine kinase-2 in both the IL-12/Th1 and IL-23/Th17 axes in vivo. J Immunol. 2011;187:181-189.
68. Freeman AF, Domingo DL, Holland SM. Hyper IgE (Job's) syndrome: A primary immune deficiency with oral manifestations. Oral Dis. 2009;15:2-7.
69. Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009;65: 32R-37R.
70. Vinh DC, Sugui JA, Hsu AP, Freeman AF, Holland SM. Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125:1389-1390.
71. Melia E, Freeman AF, Shea YR, Hsu AP, Holland SM, Olivier KN. Pulmonary nontuberculous mycobacterial infections in hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124:617-618.
72. Ma BH, Ng CS, Lam RK, Wan S, Wan IY, Lee TW, Yim AP. Recurrent hemoptysis with Penicillium marneffei and Stenotrophomonas maltophilia in Job's syndrome. Can Respir J. 2009;16:e50-e52.
73. Netea MG, Schneeberger PM, de Vries E, Kullberg BJ, van der Meer JW, Koolen MI. Th1/Th2 cytokine imbalance in a family with hyper-IgE syndrome. Neth J Med. 2002;60:349-353. (Pubitemid 39089345)
74. Yavuz H, Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin Exp Immunol. 2010;159:238-244.
75. Freeman AF, Avila EM, Shaw PA, Davis J, Hsu AP, et al. Coronary artery abnormalities in hyper-IgE syndrome. J Clin Immunol. 2011;31:338-345.
76. Gharib AM, Pettigrew RI, Elagha A, Hsu A, Welch P, Holland SM, Freeman AF. Coronary abnormalities in hyper-IgE recurrent infection syndrome: Depiction at coronary MDCT angiography. AJR Am J Roentgenol. 2009;193:W478-W481.
77. Stover DG, Freeman AF, Wright PW, Hummell DS, Ness RM. Diverticulitis in a young man with hyper-IgE syndrome. South Med J. 2010;103:1261-1263.
78. Chen CM, Lai HS, Lin CL, Hsieh KS. Colon perforation in a patient with hyperimmunoglobulin E (Job's) syndrome. J Pediatr Surg. 1995;30:1479-1480.
79. Hwang EH, Oh JT, Han SJ, Kim H. Colon perforation in hyperimmunoglobulin E syndrome. J Pediatr Surg. 1998;33:1420-1422. (Pubitemid 28443126)
80. Steiner SJ, Kleiman MB, Corkins MR, Christenson JC, Wheat LJ. Ileocecal histoplasmosis simulating Crohn disease in a patient with hyperimmunoglobulin E syndrome. Pediatr Infect Dis J. 2009;28: 744-746.
81. Cappell MS, Manzione NC. Recurrent colonic histoplasmosis after standard therapy with amphotericin B in a patient with Job's syndrome. Am J Gastroenterol. 1991;86:119-120.
82. Leonard GD, Posadas E, Herrmann PC, Anderson VL, Jaffe ES, Holland SM, Wilson WH. Non-Hodgkin's lymphoma in Job's syndrome: A case report and literature review. Leuk Lymphoma. 2004;45:2521-2525. (Pubitemid 40081202)
83. Kumanovics A, Perkins SL, Gilbert H, Cessna MH, Augustine NH, Hill HR. Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation. J Clin Immunol. 2010;30:886-893.
84. Belada D, Smolej L, Stepankova P, Kralickova P, Freiberger T. Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy. Leuk Res. 2010;34:e232-e234.
85. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: A distinct disease entity. J Pediatr. 2004;144:93-99. (Pubitemid 38091428)
86. 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].
87. Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65:735-744. (Pubitemid 30468718)
88. Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, et al. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010;126:611-617 e611.
89. Heimall J, Davis J, Shaw PA, Hsu AP, Gu W, Welch P, Holland SM, Freeman AF. Paucity of genotype-phenotype correlations in STAT3 mutation positive hyper IgE syndrome (HIES). Clin Immunol. 2011;139:75-84.
90. Ochs HD, Smith CIE, Puck J Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York, NY: Oxford University Press; 2007.
91. Kumanovics A, Wittwer CT, Pryor RJ, Augustine NH, Leppert MF, et al. Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper- IgE and recurrent infectious diseases. J Mol Diagn. 2010;12:213-219.
92. Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, et al. 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. 2011;141:128-132.
93. Freeman AF, Holland SM. The hyper-IgE syndromes. Immunol Allergy Clin North Am. 2008;28:277-291, viii. (Pubitemid 351540841)
94. Freeman AF, Holland SM. Clinical manifestations of hyper IgE syndromes. Dis Markers. 2010;29:123-130.
95. Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, et al. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin Padiatr. 2010;222:351-355.
96. McDonald DR, Massaad MJ, Johnston A, Keles S, Chatila T, Geha RS, Pai SY. 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. 2010;126:1304-1305 e1303.
97. Gatz SA, Benninghoff U, Schutz C, Schulz A, Honig M, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant. 2011;46:552-556.
98. Gennery AR, Flood TJ, Abinun M, Cant AJ. Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplant. 2000;25:1303-1305. (Pubitemid 30428147)