Novel STAT3 mutation causing hyper-IgE syndrome: Studies of the clinical course and immunopathology

Journal of Clinical Immunology

Volumn 34, Issue 4, 2014, Pages 469-477

  Sundin, Mikael ^a,b   Tesi, Bianca ^b   Sund Böhme, Maria ^a   Bryceson, Yenan T ^b   Pütsep, Katrin ^b   Chiang, Samuel C ^b   Thunberg, Sarah ^a,b   Winiarski, Jacek ^a,b   Wikström, Ann Charlotte ^a,b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

immunodeficiency; Job's Syndrome; Th17

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN E; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 13; INTERLEUKIN 15; INTERLEUKIN 17; INTERLEUKIN 5; POKEWEED MITOGEN; STAPHYLOCOCCUS ENTEROTOXIN; STAT3 PROTEIN; STAT3 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; B LYMPHOCYTE; CANDIDA ALBICANS; CASE REPORT; CONTROLLED STUDY; CYTOKINE PRODUCTION; DISEASE COURSE; DNA SEQUENCE; EXON; GENE; GENE MUTATION; GRIMBACHER SCORE; HELPER CELL; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; IMMUNE RESPONSE; IMMUNOPATHOLOGY; IN VITRO STUDY; INFANT; LYMPHOCYTE PROLIFERATION; MALE; MEASUREMENT; MEDIATOR RELEASE; NEGATIVE FEEDBACK; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SCORING SYSTEM; SIGNAL TRANSDUCTION; STAT3 GENE; CANDIDIASIS; COMPLICATION; GENETICS; HETEROZYGOTE; IMMUNOLOGY; LYMPHOCYTE COUNT; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; STAPHYLOCOCCUS INFECTION;

B-LYMPHOCYTE SUBSETS; BASE SEQUENCE; CANDIDIASIS; HETEROZYGOTE; HUMANS; IMMUNOGLOBULIN E; INFANT; JOB SYNDROME; LYMPHOCYTE COUNT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; STAPHYLOCOCCAL INFECTIONS; STAT3 TRANSCRIPTION FACTOR; T-LYMPHOCYTES, HELPER-INDUCER;

EID: 84901420442     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0011-x     Document Type: Article

References (29)

1. Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syndrome update. Ann N Y Acad Sci. 2012;1250:25-32. doi:10.1111/j.1749-6632.2011.06387.x.
2. Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome- clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis. 2011;6:76. doi:10.1186/1750-1172-6-76.
3. Levy DE, Darnell Jr JE. Stats: transcriptional control and biological impact. Nat Rev Mol Cell Biol. 2002;3(9):651-62. doi:10.1038/nrm909. (Pubitemid 34987786)
4. Minegishi Y. Hyper-IgE syndrome. Curr Opin Immunol. 2009;21(5):487-92. doi:10.1016/j.coi.2009.07.013.
5. Murray PJ. The JAK-STAT signaling pathway: input and output integration. J Immunol. 2007;178(5):2623-9. (Pubitemid 46333135)
6. O'Shea JJ, Murray PJ. Cytokine signaling modules in inflammatory responses. Immunity. 2008;28(4):477-87. doi:10.1016/j.immuni.2008.03.002. (Pubitemid 351467044)
7. Buckley RH. The hyper-IgE syndrome. Clin Rev Allergy Immunol. 2001;20(1):139-54. doi:10.1385/CRIAI:20:1:139. (Pubitemid 32221668)
8. Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.Medicine (Baltimore). 2012;91(4):e1-19. doi:10.1097/MD.0b013e31825f95b9.
9. de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med. 2008;205(7):1543-50. doi:10.1084/jem. 20080321. (Pubitemid 351962017)
10. Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205(7):1551-7. doi:10.1084/jem.20080218. (Pubitemid 351962018)
11. Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, et al. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008;452(7188):773-6. doi:10.1038/nature06764. (Pubitemid 351521078)
12. Avery DT, Deenick EK, Ma CS, Suryani S, Simpson N, Chew GY, et al. B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med. 2010;207(1):155-71. doi:10.1084/jem.20091706.
13. Avery DT, Ma CS, Bryant VL, Santner-Nanan B, Nanan R, Wong M, et al. STAT3 is required for IL-21-induced secretion of IgE from human naive B cells. Blood. 2008;112(5):1784-93. doi:10.1182/blood-2008-02-142745.
14. Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65(3):735-44. doi:10.1086/302547. (Pubitemid 30468718)
15. Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, 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(3):611-7 e1. doi:10.1016/j.jaci. 2010.06.029.
16. Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424-32 e8. doi:10.1016/j.jaci.2009.10.059.
17. Acosta-Rodriguez EV, Rivino L, Geginat J, Jarrossay D, Gattorno M, Lanzavecchia A, et al. Surface phenotype and antigenic specificity of human interleukin 17-producing T helper memory cells. Nat Immunol. 2007;8(6):639-46. doi:10.1038/ni1467. (Pubitemid 46785128)
18. Bryceson YT, Rudd E, Zheng CY, Edner J, Ma D, Wood SM, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110(6):1906-15. doi:10.1182/blood-2007-02-074468. (Pubitemid 47443904)
19. Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-31. doi:10.1002/pbc.21039. (Pubitemid 44958267)
20. Chiang SC, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-Herz W, et al. Comparison of primary human cytotoxic T cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. Blood. 2013. doi:10.1182/blood-2012-07- 442558.
21. Gaines H, Andersson L, Biberfeld G. A new method for measuring lymphoproliferation at the single-cell level inwhole blood cultures by flow cytometry. J Immunol Methods. 1996;195(1-2):63-72. (Pubitemid 26292689)
22. Svahn A, Linde A, Thorstensson R, Karlen K, Andersson L, Gaines H. Development and evaluation of a flow-cytometric assay of specific cell-mediated immune response in activated whole blood for the detection of cell-mediated immunity against varicella-zoster virus. J Immunol Methods. 2003;277(1-2):17-25. (Pubitemid 36694370)
23. Karlsson J, Carlsson G, Ramme KG, Hagglund H, Fadeel B, Nordenskjold M, et al. Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol. 2007;137(2):166-9. doi:10.1111/j.1365-2141.2007.06530.x. (Pubitemid 46474709)
24. Putsep K, Carlsson G, Boman HG, Andersson M. Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study. Lancet. 2002;360(9340):1144-9. doi:10.1016/S0140-6736(02)11201-3. (Pubitemid 35246490)
25. Marie-Cardine A, Divay F, Dutot I, Green A, Perdrix A, Boyer O, et al. Transitional B cells in humans: characterization and insight from B lymphocyte reconstitution after hematopoietic stem cell transplantation. Clin Immunol. 2008;127(1):14-25. doi:10.1016/j.clim.2007.11.013.
26. Siegel AM, Heimall J, Freeman AF, Hsu AP, Brittain E, Brenchley JM, et al. A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity. 2011;35(5):806-18. doi:10.1016/j.immuni.2011.09.016.
27. Kouro T, Takatsu K. IL-5- and eosinophil-mediated inflammation: from discovery to therapy. Int Immunol. 2009;21(12):1303-9. doi:10.1093/intimm/ dxp102.
28. Wynn TA. IL-13 effector functions. Annu Rev Immunol. 2003;21: 425-56. doi:10.1146/annurev.immunol.21.120601.141142. (Pubitemid 37174537)
29. Garraud O, Mollis SN, Holland SM, Sneller MC, Malech HL, Gallin JI, et al. Regulation of immunoglobulin production in hyper-IgE (Job's) syndrome. J Allergy Clin Immunol. 1999;103(2 Pt 1):333-40. (Pubitemid 29095841)