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Cited by 154Immunodeficiency and Autoimmune DisordersBlood disorders and treatmentsAutoimmune and Inflammatory Disorders Research

An update on the hyper-IgE syndromes

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Yong, Patrick FK, Freeman, Alexandra F, Engelhardt, Karin R, Holland, Steven, Puck, Jennifer M, Grimbacher, Bodo·2012·Arthritis Research & Therapy
DOI 10.1186/ar4069PMC PMC3674633
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Abstract

The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities. Autosomal recessive HIES has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral skin infections instead. This review article discusses the common clinical features of the syndrome, the genetic mutations responsible and the pathogenesis of the disease, as well as treatments currently used.

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  1. Davis SD Schaller J Wedgwood RJ Job's Syndrome. Recurrent, "cold", staphylococcal abscesses Lancet 1966 14 1013 1015 4161105
  2. Buckley RH Wray BB Belmaker EZ Extreme hyperimmunoglobulinemia E and undue susceptibility to infection Pediatrics 1972 14 59 70 5059313
  3. Hill HR Ochs HD Quie PG Clark RA Pabst HF Klebanoff SJ Wedgwood RJ Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses Lancet 1974 14 617 619 4137601
  4. Grimbacher B Holland SM Gallin JI Greenberg F Hill SC Malech HL Miller JA O'Connell AC Puck JM Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder N Engl J Med 1999 14 692 702 10.1056/NEJM199903043400904 10053178 · DOI
  5. Holland SM DeLeo FR Elloumi HZ Hsu AP Uzel G Brodsky N Freeman AF Demidowich A Davis J Turner ML Anderson VL Darnell DN Welch PA Kuhns DB Frucht DM Malech HL Gallin JI Kobayashi SD Whitney AR Voyich JM Musser JM Woellner C Schäffer AA Puck JM Grimbacher B STAT3 mutations in the hyper-IgE syndrome N Engl J Med 2007 14 1608 1619 10.1056/NEJMoa073687 17881745 · DOI
  6. Minegishi Y Saito M Tsuchiya S Tsuge I Takada H Hara T Kawamura N Ariga T Pasic S Stojkovic O Metin A Karasuyama H Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome Nature 2007 14 1058 1062 10.1038/nature06096 17676033 · DOI
  7. Sowerwine KJ Holland SM Freeman AF Hyper-IgE syndrome update Ann N Y Acad Sci 2012 14 25 32 10.1111/j.1749-6632.2011.06387.x 22268731 PMC4103910 · DOI
  8. Chamlin SL McCalmont TH Cunningham BB Esterly NB Lai CH Mallory SB Mancini AJ Tamburro J Frieden IJ Cutaneous manifestations of hyper-IgE syndrome in infants and children J Pediatr 2002 14 572 575 10.1067/mpd.2002.127503 12378200 · DOI
  9. Eberting CL Davis J Puck JM Holland SM Turner ML Dermatitis and the newborn rash of hyper-IgE syndrome Arch Dermatol 2004 14 1119 1125 10.1001/archderm.140.9.1119 15381553 · DOI
  10. Erlewyn-Lajeunesse MD Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment Pediatr Allergy Immunol 2000 14 133 141 10.1034/j.1399-3038.2000.00091.x 10981522 · DOI
  11. 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 14 617 618 10.1016/j.jaci.2009.07.007 19733303 PMC2740750 · DOI
  12. Vinh DC Sugui JA Hsu AP Freeman AF Holland SM Invasive fungal disease in autosomal-dominant hyper-IgE syndrome J Allergy Clin Immunol 2010 14 1389 1390 10.1016/j.jaci.2010.01.047 20392475 PMC2879472 · DOI
  13. Freeman AF Kleiner DE Nadiminti H Davis J Quezado M Anderson V Puck JM Holland SM Causes of death in hyper-IgE syndrome J Allergy Clin Immunol 2007 14 1234 1240 10.1016/j.jaci.2006.12.666 17335882 · DOI
  14. Freeman AF Davis J Anderson VL Barson W Darnell DN Puck JM Holland SM Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome Pediatrics 2006 14 e1271 e1275 10.1542/peds.2006-0311 16940164 · DOI
  15. Garty BZ Ben-Baruch A Rolinsky A Woellner C Grimbacher B Marcus N Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome Eur J Pediatr 2010 14 35 37 10.1007/s00431-009-0973-5 19308447 · DOI
  16. Jacobs DH Macher AM Handler R Bennett JE Collen MJ Gallin JI Esophageal cryptococcosis in a patient with the hyperimmunoglobulin E-recurrent infection (Job's) syndrome Gastroenterology 1984 14 201 203 6373479
  17. Hutto JO Bryan CS Greene FL White CJ Gallin JI Cryptococcosis of the colon resembling Crohn's disease in a patient with the hyperimmunoglobulinemia E-recurrent infection (Job's) syndrome Gastroenterology 1988 14 808 812 3338649
  18. Borges WG Hensley T Carey JC Petrak BA Hill HR The face of Job J Pediatr 1998 14 303 305 10.1016/S0022-3476(98)70243-4 9709729 · DOI
  19. Freeman AF Collura-Burke CJ Patronas NJ Ilcus LS Darnell D Davis J Puck JM Holland SM Brain abnormalities in patients with hyperimmunoglobulin E syndrome Pediatrics 2007 14 e1121 e1125 10.1542/peds.2006-2649 17438082 · DOI
  20. Hoger PH Boltshauser E Hitzig WH Craniosynostosis in hyper-IgEsyndrome Eur J Pediatr 1985 14 414 417 10.1007/BF00441793 4076261 · DOI
  21. Smithwick EM Finelt M Pahwa S Good RA Naspitz CK Mendes NF Kopersztyk S Spira TJ Nahmias AJ Cranial synostosis in Job's syndrome Lancet 1978 14 826 85845
  22. O'Connell AC Puck JM Grimbacher B Facchetti F Majorana A Gallin JI Malech HL Holland SM Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000 14 177 185 10.1067/moe.2000.103129 10673653 · DOI
  23. Domingo DL Freeman AF Davis J Puck JM Tianxia W Holland SM Hart TC Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome Oral Dis 2008 14 73 81 18173452
  24. Ling JC Freeman AF Gharib AM Arai AE Lederman RJ Rosing DR Holland SM Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome Clin Immunol 2007 14 255 258 10.1016/j.clim.2006.10.005 17098478 PMC6588833 · DOI
  25. Young TY Jerome D Gupta S Hyperimmunoglobulinemia E syndrome associated with coronary artery aneurysms: deficiency of central memory CD4+ T cells and expansion of effector memory CD4+ T cells Ann Allergy Asthma Immunol 2007 14 389 392 10.1016/S1081-1206(10)60887-3 17458437 · DOI
  26. Chandesris MO Azarine A Ong KT Taleb S Boutouyrie P Mousseaux E Romain M Bozec E Laurent S Boddaert N Thumerelle C Tillie-Leblond I Hoarau C Lebranchu Y Aladjidi N Tron F Barlogis V Body G Munzer M Jaussaud R Suarez F Clément O Hermine O Tedgui A Lortholary O Picard C Mallat Z Fischer A Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency Circ Cardiovasc Genet 2012 14 25 34 10.1161/CIRCGENETICS.111.961235 22084479 · DOI
  27. Alomar-Melero E Martin TD Janelle GM Peng YG An unusual giant right coronary artery aneurysm resembles an intracardiac mass Anesth Analg 2008 14 1161 1162 10.1213/ane.0b013e318181f74f 18806020 · DOI
  28. Freeman AF Avila EM Shaw PA Davis J Hsu AP Welch P Matta JR Hadigan C Pettigrew RI Holland SM Gharib AM Coronary artery abnormalities in Hyper-IgE syndrome J Clin Immunol 2011 14 338 345 10.1007/s10875-011-9515-9 21494893 PMC4091041 · DOI
  29. Gorin LJ Jeha SC Sullivan MP Rosenblatt HM Shearer WT Burkitt's lymphoma developing in a 7-year-old boy with hyper-IgE syndrome J Allergy Clin Immunol 1989 14 5 10 10.1016/0091-6749(89)90471-5 2783597 · DOI
  30. 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 14 2521 2525 10.1080/10428190400004463 15621772 · DOI
  31. 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 14 886 893 10.1007/s10875-010-9452-z 20859667 · DOI
  32. Clark TJ Herod JJ Kehoe S Luesley DM The development of invasive vulvar cancer in a patient with Job's syndrome, a rare immunodeficient condition Br J Obstet Gynaecol 1998 14 468 470 10.1111/j.1471-0528.1998.tb10137.x 9609279 · DOI
  33. Oztop I Demirkan B Tarhan O Kayahan H Yilmaz U Kargi A Alakavuklar M The development of pulmonary adenocarcinoma in a patient with Job's syndrome, a rare immunodeficiency condition Tumori 2004 14 132 135 15143986
  34. Min JK Cho ML Kim SC Lee YS Lee SH Park SH Hong YS Cho CS Kim HY Hyperimmunoglobulin E-recurrent infection syndrome in a patient with juvenile dermatomyositis Korean J Intern Med 1999 14 95 98 10063322 PMC4531902
  35. Kimata H High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome J Allergy Clin Immunol 1995 14 771 774 10.1016/S0091-6749(95)70185-0 7897163 · DOI
  36. Tanji C Yorioka N Kanahara K Naito T Oda H Ishikawa K Taguchi T Hyperimmunoglobulin E syndrome associated with nephrotic syndrome Intern Med 1999 14 491 494 10.2169/internalmedicine.38.491 10411355 · DOI
  37. Brugnoni D Franceschini F Airo P Cattaneo R Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins Br J Rheumatol 1998 14 807 808 9714373
  38. North J Kotecha S Houtman P Whaley K Systemic lupus erythematosus complicating hyper IgE syndrome Br J Rheumatol 1997 14 297 298 10.1093/rheumatology/36.2.297 9133954 · DOI
  39. Berger M Kirkpatrick CH Goldsmith PK Gallin JI IgE antibodies to Staphylococcus aureus and Candida albicans in patients with the syndrome of hyperimmunoglobulin E and recurrent infections J Immunol 1980 14 2437 2443 7000900
  40. Donabedian H Gallin JI The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature Medicine (Baltimore) 1983 14 195 208 6348470
  41. Buckley RH The hyper-IgE syndrome Clin Rev Allergy Immunol 2001 14 139 154 10.1385/CRIAI:20:1:139 11269224 · DOI
  42. Speckmann C Enders A Woellner C Thiel D Rensing-Ehl A Schlesier M Rohr J Jakob T Oswald E Kopp MV Sanal O Litzman J Plebani A Pietrogrande MC Franco JL Espanol T Grimbacher B Ehl S Reduced memory B cells in patients with hyper IgE syndrome Clin Immunol 2008 14 448 454 10.1016/j.clim.2008.08.002 18835223 · DOI
  43. Siegel AM Heimall J Freeman AF Hsu AP Brittain E Brenchley JM Douek DC Fahle GH Cohen JI Holland SM Milner JD A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory Immunity 2011 14 806 818 10.1016/j.immuni.2011.09.016 22118528 PMC3228524 · DOI
  44. Renner ED Rylaarsdam S Anover-Sombke S Rack AL Reichenbach J Carey JC Zhu Q Jansson AF Barboza J Schimke LF Leppert MF Getz MM Seger RA Hill HR Belohradsky BH Torgerson TR Ochs HD Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome J Allergy Clin Immunol 2008 14 181 187 10.1016/j.jaci.2008.04.037 18602572 PMC4560358 · DOI
  45. Ma CS Chew GY Simpson N Priyadarshi A Wong M Grimbacher B Fulcher DA Tangye SG Cook MC Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3 J Exp Med 2008 14 1551 1557 10.1084/jem.20080218 18591410 PMC2442632 · DOI · Paper page
  46. Jiao H Tóth B Erdos M Fransson I Rákóczi E Balogh I Magyarics Z Dérfalvi B Csorba G Szaflarska A Megarbane A Akatcherian C Dbaibo G Rajnavölgyi E Hammarstróm L Kere J Lefranc G Marodi L Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups Mol Immunol 2008 14 202 206 10.1016/j.molimm.2008.07.001 18706697 · DOI
  47. de Beaucoudrey L Puel A Filipe-Santos O Cobat A Ghandil P Chrabieh M Feinberg J von Bernuth H Samarina A Jannière L Fieschi C Stéphan JL Boileau C Lyonnet S Jondeau G Cormier-Daire V Le Merrer M Hoarau C Lebranchu Y Lortholary O Chandesris MO Tron F Gambineri E Bianchi L Rodriguez-Gallego C Zitnik SE Vasconcelos J Guedes M Vitor AB Marodi L Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells J Exp Med 2008 14 1543 1550 10.1084/jem.20080321 18591412 PMC2442631 · DOI
  48. Woellner C Gertz EM Schäffer AA Lagos M Perro M Glocker EO Pietrogrande MC Cossu F Franco JL Matamoros N Pietrucha B Heropolitańska-Pliszka E Yeganeh M Moin M Español T Ehl S Gennery AR Abinun M Breborowicz A Niehues T Kilic SS Junker A Turvey SE Plebani A Sanchez B Garty BZ Pignata C Cancrini C Litzman J Sanal O Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome J Allergy Clin Immunol 2010 14 424 432 10.1016/j.jaci.2009.10.059 20159255 PMC2878129 · DOI
  49. 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 14 75 84 10.1016/j.clim.2011.01.001 21288777 PMC3065511 · DOI
  50. Takeda K Noguchi K Shi W Tanaka T Matsumoto M Yoshida N Kishimoto T Akira S Targeted disruption of the mouse Stat3 gene leads to early embryonic lethality Proc Natl Acad Sci USA 1997 14 3801 3804 10.1073/pnas.94.8.3801 9108058 PMC20521 · DOI · Paper page
  51. Milner JD Brenchley JM Laurence A Freeman AF Hill BJ Elias KM Kanno Y Spalding C Elloumi HZ Paulson ML Davis J Hsu A Asher AI O'Shea J Holland SM Paul WE Douek DC Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome Nature 2008 14 773 776 10.1038/nature06764 18337720 PMC2864108 · DOI · Paper page
  52. Puel A Döffinger R Natividad A Chrabieh M Barcenas-Morales G Picard C Cobat A Ouachée-Chardin M Toulon A Bustamante J Al-Muhsen S Al-Owain M Arkwright PD Costigan C McConnell V Cant AJ Abinun M Polak M Bougnéres PF Kumararatne D Marodi L Nahum A Roifman C Blanche S Fischer A Bodemer C Abel L Lilic D Casanova JL Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I J Exp Med 2010 14 291 297 10.1084/jem.20091983 20123958 PMC2822614 · DOI
  53. Browne SK Holland SM Anti-cytokine autoantibodies explain some chronic mucocutaneous candidiasis Immunol Cell Biol 2010 14 614 615 10.1038/icb.2010.72 20548324 PMC4103911 · DOI
  54. Kisand K Bøe Wolff AS Podkrajsek KT Tserel L Link M Kisand KV Ersvaer E Perheentupa J Erichsen MM Bratanic N Meloni A Cetani F Perniola R Ergun- Longmire B Maclaren N Krohn KJ Pura M Schalke B Ströbel P Leite MI Battelino T Husebye ES Peterson P Willcox N Meager A Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines J Exp Med 2010 14 299 308 10.1084/jem.20091669 20123959 PMC2822605 · DOI
  55. Aujla SJ Chan YR Zheng M Fei M Askew DJ Pociask DA Reinhart TA McAllister F Edeal J Gaus K Husain S Kreindler JL Dubin PJ Pilewski JM Myerburg MM Mason CA Iwakura Y Kolls JK IL-22 mediates mucosal host defense against Gram-negative bacterial pneumonia Nat Med 2008 14 275 281 10.1038/nm1710 18264110 PMC2901867 · DOI
  56. Kolls JK McCray PB Jr Chan YR Cytokine-mediated regulation of antimicrobial proteins Nat Rev Immunol 2008 14 829 835 10.1038/nri2433 18949018 PMC2901862 · DOI
  57. Minegishi Y Saito M Nagasawa M Takada H Hara T Tsuchiya S Agematsu K Yamada M Kawamura N Ariga T Tsuge I Karasuyama H Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome J Exp Med 2009 14 1291 1301 10.1084/jem.20082767 19487419 PMC2715068 · DOI
  58. Nieminen P Morgan NV Fenwick AL Parmanen S Veistinen L Mikkola ML van der Spek PJ Giraud A Judd L Arte S Brueton LA Wall SA Mathijssen IM Maher ER Wilkie AO Kreiborg S Thesleff I Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth Am J Hum Genet 2011 14 67 81 10.1016/j.ajhg.2011.05.024 21741611 PMC3135804 · DOI
  59. Schroer N Pahne J Walch B Wickenhauser C Smola S Molecular pathobiology of human cervical high-grade lesions: paracrine STAT3 activation in tumor-instructed myeloid cells drives local MMP-9 expression Cancer Res 2011 14 87 97 10.1158/0008-5472.CAN-10-2193 21199798 · DOI
  60. Song Y Qian L Song S Chen L Zhang Y Yuan G Zhang H Xia Q Hu M Yu M Shi M Jiang Z Guo N Fra-1 and Stat3 synergistically regulate activation of human MMP-9 gene Mol Immunol 2008 14 137 143 10.1016/j.molimm.2007.04.031 17572495 · DOI
  61. Tsareva SA Moriggl R Corvinus FM Wiederanders B Schütz A Kovacic B Friedrich K Signal transducer and activator of transcription 3 activation promotes invasive growth of colon carcinomas through matrix metalloproteinase induction Neoplasia 2007 14 279 291 10.1593/neo.06820 17460772 PMC1854849 · DOI
  62. Sekhsaria V Dodd LE Hsu AP Heimall JR Freeman AF Ding L Holland SM Uzel G Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome J Allergy Clin Immunol 2011 14 1124 1127 10.1016/j.jaci.2011.07.046 21872914 PMC4074374 · DOI
  63. Quintero PA Knolle MD Cala LF Zhuang Y Owen CA Matrix metalloproteinase-8 inactivates macrophage inflammatory protein-1 alpha to reduce acute lung inflammation and injury in mice J Immunol 2010 14 1575 1588 10.4049/jimmunol.0900290 20042585 PMC2938777 · DOI
  64. Pyo R Lee JK Shipley JM Curci JA Mao D Ziporin SJ Ennis TL Shapiro SD Senior RM Thompson RW Targeted gene disruption of matrix metalloproteinase-9 (gelatinase B) suppresses development of experimental abdominal aortic aneurysms J Clin Invest 2000 14 1641 1649 10.1172/JCI8931 10841523 PMC300851 · DOI
  65. Pradhan-Palikhe P Vikatmaa P Lajunen T Palikhe A Lepäntalo M Tervahartiala T Salo T Saikku P Leinonen M Pussinen PJ Sorsa Elevated MMP-8 and decreased myeloperoxidase concentrations associate significantly with the risk for peripheral atherosclerosis disease and abdominal aortic aneurysm Scand J Immunol 2010 14 150 157 10.1111/j.1365-3083.2010.02418.x 20618774 · DOI
  66. Grimbacher B Schäffer AA Holland SM Davis J Gallin JI Malech HL Atkinson TP Belohradsky BH Buckley RH Cossu F Español T Garty BZ Matamoros N Myers LA Nelson RP Ochs HD Renner ED Wellinghausen N Puck JM Genetic linkage of hyper-IgE syndrome to chromosome 4 Am J Hum Genet 1999 14 735 744 10.1086/302547 10441580 PMC1377980 · DOI
  67. Schimke LF Sawalle-Belohradsky J Roesler J Wollenberg A Rack A Borte M Rieber N Cremer R Maass E Dopfer R Reichenbach J Wahn V Hoenig M Jansson AF Roesen-Wolff A Schaub B Seger R Hill HR Ochs HD Torgerson TR Belohradsky BH Renner ED 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 14 611 617 10.1016/j.jaci.2010.06.029 20816194 · DOI
  68. Sheerin KA Buckley RH Antibody responses to protein, polysaccharide, and phi X174 antigens in the hyperimmunoglobulinemia E (hyper-IgE) syndrome J Allergy Clin Immunol 1991 14 803 811 10.1016/0091-6749(91)90126-9 1826506 · DOI
  69. Wakim M Alazard M Yajima A Speights D Saxon A Stiehm ER High dose intravenous immunoglobulin in atopic dermatitis and hyper-IgE syndrome Ann Allergy Asthma Immunol 1998 14 153 158 10.1016/S1081-1206(10)62802-5 9723561 · DOI
  70. Nester TA Wagnon AH Reilly WF Spitzer G Kjeldsberg CR Hill HR Effects of allogeneic peripheral stem cell transplantation in a patient with job syndrome of hyperimmunoglobulinemia E and recurrent infections Am J Med 1998 14 162 164 10.1016/S0002-9343(98)00200-9 9727824 · DOI
  71. Gennery AR Flood TJ Abinun M Cant AJ Bone marrow transplantation does not correct the hyper IgE syndrome Bone Marrow Transplant 2000 14 1303 1305 10.1038/sj.bmt.1702446 10871737 · DOI
  72. Goussetis E Peristeri I Kitra V Traeger-Synodinos J Theodosaki M Psarra K Kanariou M Tzortzatou-Stathopoulou F Petrakou E Fylaktou I Kanavakis E Graphakos S Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome J Allergy Clin Immunol 2010 14 392 394 10.1016/j.jaci.2010.05.005 20584545 · DOI
  73. Renner ED Puck JM Holland SM Schmitt M Weiss M Frosch M Bergmann M Davis J Belohradsky BH Grimbacher B Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity J Pediatr 2004 14 93 99 10.1016/S0022-3476(03)00449-9 14722525 · DOI
  74. Zhang Q Davis JC Dove CG Su HC Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome Dis Markers 2010 14 131 139 21178272 PMC3835385
  75. Engelhardt KR McGhee S Winkler S Sassi A Woellner C Lopez-Herrera G Chen A Kim HS Lloret MG Schulze I Ehl S Thiel J Pfeifer D Veelken H Niehues T Siepermann K Weinspach S Reisli I Keles S Genel F Kutukculer N Camcioğlu Y Somer A Karakoc-Aydiner E Barlan I Gennery A Metin A Degerliyurt A Pietrogrande MC Yeganeh M 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 14 1289 1302 10.1016/j.jaci.2009.10.038 20004785 PMC2818862 · DOI
  76. Harada Y Tanaka Y Terasawa M Pieczyk M Habiro K Katakai T Hanawa- Suetsugu K Kukimoto-Niino M Nishizaki T Shirouzu M Duan X Uruno T Nishikimi A Sanematsu F Yokoyama S Stein JV Kinashi T Fukui Y DOCK8 is a Cdc42 activator critical for interstitial dendritic cell migration during immune responses Blood 2012 14 4451 4461 10.1182/blood-2012-01-407098 22461490 PMC3418773 · DOI · Paper page
  77. Jabara HH McDonald DR Janssen E Massaad MJ Ramesh N Borzutzky A Rauter I Benson H Schneider L Baxi S Recher M Notarangelo LD Wakim R Dbaibo G Dasouki M Al-Herz W Barlan I Baris S Kutukculer N Ochs HD Plebani A Kanariou M Lefranc G Reisli I Fitzgerald KA Golenbock D Manis J Keles S Ceja R Chatila TA Geha RS DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation Nat Immunol 2012 14 612 620 10.1038/ni.2305 22581261 PMC3362684 · DOI
  78. Randall KL Chan SS Ma CS Fung I Mei Y Yabas M Tan A Arkwright PD Al Suwairi W Lugo Reyes SO Yamazaki-Nakashimada MA Garcia-Cruz Mde L Smart JM Picard C Okada S Jouanguy E Casanova JL Lambe T Cornall RJ Russell S Oliaro J Tangye SG Bertram EM Goodnow CC DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice J Exp Med 2011 14 2305 2320 10.1084/jem.20110345 22006977 PMC3201196 · DOI
  79. Randall KL Lambe T Goodnow CC Cornall RJ The essential role of DOCK8 in humoral immunity Dis Markers 2010 14 141 150 21178273 PMC3835290
  80. Lambe T Crawford G Johnson AL Crockford TL Bouriez-Jones T Smyth AM Pham TH Zhang Q Freeman AF Cyster JG Su HC Cornall RJ DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory Eur J Immunol 2011 14 3423 3435 10.1002/eji.201141759 21969276 PMC3517112 · DOI
  81. Sanal O Jing H Ozgur T Ayvaz D Strauss-Albee DM Ersoy-Evans S Tezcan I Turkkani G Matthews HF Haliloglu G Yuce A Yalcin B Gokoz O Oguz KK Su HC Additional diverse findings expand the clinical presentation of DOCK8 deficiency J Clin Immunol 2012 14 698 708 10.1007/s10875-012-9664-5 22476911 PMC3732775 · DOI
  82. Gatz SA Benninghoff U Schütz C Schulz A Hönig M Pannicke U Holzmann KH Schwarz K Friedrich W Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation Bone Marrow Transplant 2011 14 552 556 10.1038/bmt.2010.169 20622910 · DOI
  83. Bittner TC Pannicke U Renner ED Notheis G Hoffmann F Belohradsky BH Wintergerst U Hauser M Klein B Schwarz K Schmid I Albert MH Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation Klin Padiatr 2010 14 351 355 10.1055/s-0030-1265135 21058221 · DOI
  84. Barlogis V Galambrun C Chambost H Lamoureux-Toth S Petit P Stephan JL Michel G Fischer A Picard C Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency J Allergy Clin Immunol 2011 14 420 422 10.1016/j.jaci.2011.03.025 21546070 · DOI
  85. Metin A Tavil B Azık F Azkur D Ok-Bozkaya I Kocabas C Tunc B Uckan D Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome Pediatr Transplant 2012 14 398 399 10.1111/j.1399-3046.2011.01641.x 22248482 · DOI
  86. Minegishi Y Saito M Morio T Watanabe K Agematsu K Tsuchiya S Takada H Hara T Kawamura N Ariga T Kaneko H Kondo N Tsuge I Yachie A Sakiyama Y Iwata T Bessho F Ohishi T Joh K Imai K Kogawa K Shinohara M Fujieda M Wakiguchi H Pasic S Abinun M Ochs HD Renner ED Jansson A Belohradsky BH Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity Immunity 2006 14 745 755 10.1016/j.immuni.2006.09.009 17088085 · DOI
  87. 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 14 1055 1057 10.1016/j.jpeds.2012.01.056 22402565 PMC3360808 · DOI
  88. Antoniades K Hatzistilianou M Pitsavas G Agouridaki C Athanassiadou F Co-existence of Dubowitz and hyper-IgE syndromes: a case report Eur J Pediatr 1996 14 390 392 10.1007/BF01955268 8741037 · DOI
  89. Boeck A Gfatter R Braun F Fritz B Pentasomy × and hyper IgE syndrome: co-existence of two distinct genetic disorders Eur J Pediatr 1999 14 723 726 10.1007/s004310051187 10485303 · DOI
  90. Boeck A Kosan C Ciznar P Kunz J Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene Am J Med Genet 2001 14 53 56 10.1002/ajmg.10007 11746028 · DOI

Cited by

Sorted by citations

Authors
Yong, P. F., Freeman, A. F., Engelhardt, K. R., Holland, S., Puck, J. M., & Grimbacher, B.
Affiliations
  • Barts Health NHS Trust (GB)
  • National Institutes of Health (US)
  • University of Freiburg (DE)
  • University of California, San Francisco (US)
Corresponding author
Grimbacher, Bodo
ORCID
Venue
Arthritis Research & Therapy
Publisher
Springer Science and Business Media LLC
Published
2012
Volume
14
Issue
6
Pages
228
ISSN
1478-6354 (ISSN-L)
DOI
10.1186/ar4069
PMC
PMC3674633
OpenAlex
W2169508444
Cited by
154
References
1
Citations by year
2026: 2 · 2025: 10 · 2024: 7 · 2023: 3 · 2022: 7 · 2021: 16 · 2020: 12 · 2019: 16 · 2018: 11 · 2017: 13 · 2016: 15 · 2015: 17 · 2014: 19 · 2013: 4 · 2012: 2
FWCI
1.24
Type
journal article
Language
en
Open access
Locations
  • Arthritis Research & Therapy (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
  • Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
Keywords
hyper-IgE syndrome, Job's syndrome, primary immunodeficiency, elevated IgE, STAT3 mutations, DOCK8 mutations, autosomal dominant inheritance, autosomal recessive inheritance, atopic dermatitis, pulmonary infection, viral skin infections, connective tissue abnormalities, skeletal abnormalities, vascular anomalies, dental anomalies, pathogenesis, treatment
MeSH terms
Genes, Dominant, Genes, Recessive, Humans, Job Syndrome, Mutation, Genetic Predisposition to Disease, Guanine Nucleotide Exchange Factors, STAT3 Transcription Factor

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