An update on the hyper-IgE syndromes

Arthritis Research and Therapy

Volumn 14, Issue 6, 2012, Pages

  Yong, Patrick F K ^a   Freeman, Alexandra F ^b   Engelhardt, Karin R ^c,d   Holland, Steven ^b   Puck, Jennifer M ^e   Grimbacher, Bodo ^c,d  

^a BARTS HEALTH NHS TRUST   (United Kingdom)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; ANTIHISTAMINIC AGENT; CHLORHEXIDINE; CORTICOSTEROID; COTRIMOXAZOLE; FLUCONAZOLE; GELATINASE B; IMIQUIMOD; IMMUNOGLOBULIN E; INTERLEUKIN 17; ITRACONAZOLE; NEUTROPHIL COLLAGENASE; POSACONAZOLE; SALICYLIC ACID; STAT3 PROTEIN; STROMELYSIN; TRANSFORMING GROWTH FACTOR BETA; VORICONAZOLE; DOCK8 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR;

ACROCEPHALOSYNDACTYLY; ALLERGIC DISEASE; ANTIBODY PRODUCTION; ASTHMA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPER IGE SYNDROME; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE HYPER IGE SYNDROME; BONE MARROW TRANSPLANTATION; BONE METASTASIS; BRAIN ARTERY ANEURYSM; CD8+ T LYMPHOCYTE; CHRONIC GLOMERULONEPHRITIS; CLINICAL FEATURE; CORONARY ARTERY ANEURYSM; CRYOTHERAPY; DERMATITIS; DERMATOMYOSITIS; DUBOWITZ SYNDROME; ECZEMA; EOSINOPHILIA; GENE MUTATION; GENETIC SCREENING; HAEMOPHILUS INFLUENZAE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HODGKIN DISEASE; HUMAN; HYPER IGE SYNDROME; HYPERTENSION; IMMUNE SYSTEM; IMMUNOGLOBULIN BLOOD LEVEL; JOINT LAXITY; LIVER METASTASIS; LUNG ADENOCARCINOMA; LUNG INFECTION; MUCOCUTANEOUS CANDIDIASIS; MYCOSIS; NONHODGKIN LYMPHOMA; NONHUMAN; ONYCHOMYCOSIS; OSTEOPENIA; PATHOGENESIS; PNEUMATOCELE; PNEUMONIA; PROTEIN DEFICIENCY; RASH; RESPIRATORY TRACT INFECTION; REVIEW; SCOLIOSIS; SCORING SYSTEM; SIGNAL TRANSDUCTION; SKIN ABSCESS; SPINAL CORD METASTASIS; SQUAMOUS CELL CARCINOMA; STAPHYLOCOCCAL SKIN INFECTION; STAPHYLOCOCCUS AUREUS; STREPTOCOCCUS PNEUMONIA; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE; TH17 CELL; THRUSH; VULVA CARCINOMA; DOMINANT GENE; GENETIC PREDISPOSITION; GENETICS; JOB SYNDROME; MUTATION; PATHOLOGY; RECESSIVE GENE;

GENES, DOMINANT; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; JOB SYNDROME; MUTATION; STAT3 TRANSCRIPTION FACTOR;

EID: 84870393179     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar4069     Document Type: Review

References (91)

1. Davis SD, Schaller J, Wedgwood RJ. Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet 1966, 1:1013-1015.
2. Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 1972, 49:59-70.
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, 2:617-619.
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, 340:692-702. 10.1056/NEJM199903043400904, 10053178.
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, 357:1608-1619. 10.1056/NEJMoa073687, 17881745.
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, 448:1058-1062. 10.1038/nature06096, 11937867.
7. Sowerwine KJ, Holland SM, Freeman AF. Hyper-IgE syndrome update. Ann N Y Acad Sci 2012, 1250:25-32. 10.1111/j.1749-6632.2011.06387.x, 22268731.
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, 141:572-575. 10.1067/mpd.2002.127503, 12378200.
9. Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol 2004, 140:1119-1125. 10.1001/archderm.140.9.1119, 15381553.
10. Erlewyn-Lajeunesse MD. Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment. Pediatr Allergy Immunol 2000, 11:133-141. 10.1034/j.1399-3038.2000.00091.x, 10981522.
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, 124:617-618. 10.1016/j.jaci.2009.07.007, 2740750, 19733303.
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, 125:1389-1390. 10.1016/j.jaci.2010.01.047, 2879472, 20392475.
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, 119:1234-1240. 10.1016/j.jaci.2006.12.666, 17335882.
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, 118:e1271-e1275. 10.1542/peds.2006-0311, 16940164.
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, 169:35-37. 10.1007/s00431-009-0973-5, 19308447.
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, 87:201-203.
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, 94:808-812.
18. Borges WG, Hensley T, Carey JC, Petrak BA, Hill HR. The face of Job. J Pediatr 1998, 133:303-305. 10.1016/S0022-3476(98)70243-4, 2019059.
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, 119:e1121-e1125. 10.1542/peds.2006-2649, 9917645.
20. Hoger PH, Boltshauser E, Hitzig WH. Craniosynostosis in hyper-IgEsyndrome. Eur J Pediatr 1985, 144:414-417. 10.1007/BF00441793, 4076261.
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, 1:826.
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, 89:177-185. 10.1067/moe.2000.103129, 10673653.
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.
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, 122:255-258. 10.1016/j.clim.2006.10.005, 17098478.
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, 98:389-392. 10.1016/S1081-1206(10)60887-3, 17458437.
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, 5:25-34. 10.1161/CIRCGENETICS.111.961235, 22084479.
27. Alomar-Melero E, Martin TD, Janelle GM, Peng YG. An unusual giant right coronary artery aneurysm resembles an intracardiac mass. Anesth Analg 2008, 107:1161-1162. 10.1213/ane.0b013e318181f74f, 18806020.
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, 31:338-345. 10.1007/s10875-011-9515-9, 21494893.
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, 83:5-10. 10.1016/0091-6749(89)90471-5, 2783597.
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, 45:2521-2525. 10.1080/10428190400004463, 15621772.
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, 30:886-893. 10.1007/s10875-010-9452-z, 20859667.
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, 105:468-470. 10.1111/j.1471-0528.1998.tb10137.x, 9609279.
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, 90:132-135.
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.
35. Kimata H. High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol 1995, 95:771-774. 10.1016/S0091-6749(95)70185-0, 7897163.
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, 38:491-494. 10.2169/internalmedicine.38.491, 10411355.
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, 37:807-808.
38. North J, Kotecha S, Houtman P, Whaley K. Systemic lupus erythematosus complicating hyper IgE syndrome. Br J Rheumatol 1997, 36:297-298. 10.1093/rheumatology/36.2.297, 9133954.
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, 125:2437-2443.
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, 62:195-208.
41. Buckley RH. The hyper-IgE syndrome. Clin Rev Allergy Immunol 2001, 20:139-154. 10.1385/CRIAI:20:1:139, 11269224.
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, 129:448-454. 10.1016/j.clim.2008.08.002, 18835223.
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, 35:806-818. 10.1016/j.immuni.2011.09.016, 3228524, 22118528.
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, 122:181-187. 10.1016/j.jaci.2008.04.037, 18602572.
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, 205:1551-1557. 10.1084/jem.20080218, 2442632, 18591410.
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, 46:202-206. 10.1016/j.molimm.2008.07.001, 18706697.
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, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 2008, 205:1543-1550. 10.1084/jem.20080321, 2442631, 18591412.
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, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010, 125:424-432. 10.1016/j.jaci.2009.10.059, 2878129, 20159255.
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, 139:75-84. 10.1016/j.clim.2011.01.001, 3065511, 21288777.
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, 94:3801-3804. 10.1073/pnas.94.8.3801, 20521, 9108058.
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, 452:773-776. 10.1038/nature06764, 2864108, 18337720.
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, 207:291-297. 10.1084/jem.20091983, 2822614, 20123958.
53. Browne SK, Holland SM. Anti-cytokine autoantibodies explain some chronic mucocutaneous candidiasis. Immunol Cell Biol 2010, 88:614-615. 10.1038/icb.2010.72, 20548324.
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, 207:299-308. 10.1084/jem.20091669, 2822605, 20123959.
55. Huang W, Na L, Fidel PL, Schwarzenberger P. Requirement of interleukin-17A for systemic anti-Candida albicans host defense in mice. J Infect Dis 2004, 190:624-631. 10.1086/422329, 15243941.
56. 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, 2901867, 18264110.
57. Kolls JK, McCray PB, Chan YR. Cytokine-mediated regulation of antimicrobial proteins. Nat Rev Immunol 2008, 8:829-835. 10.1038/nri2433, 2901862, 18949018.
58. 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, 206:1291-1301. 10.1084/jem.20082767, 2715068, 19487419.
59. 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, 89:67-81. 10.1016/j.ajhg.2011.05.024, 3135804, 21741611.
60. 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, 71:87-97. 10.1158/0008-5472.CAN-10-2193, 21199798.
61. 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, 45:137-143. 10.1016/j.molimm.2007.04.031, 17572495.
62. 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, 9:279-291. 10.1593/neo.06820, 1854849, 17460772.
63. 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, 128:1124-1127. 10.1016/j.jaci.2011.07.046, 21872914.
64. 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, 184:1575-1588. 10.4049/jimmunol.0900290, 2938777, 20042585.
65. 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, 105:1641-1649. 10.1172/JCI8931, 300851, 10841523.
66. 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, 72:150-157. 10.1111/j.1365-3083.2010.02418.x, 20618774.
67. 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, 65:735-744. 10.1086/302547, 1377980, 10441580.
68. 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, 126:611-617. 10.1016/j.jaci.2010.06.029, 20816194.
69. 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, 87:803-811. 10.1016/0091-6749(91)90126-9, 1826506.
70. 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, 81:153-158. 10.1016/S1081-1206(10)62802-5, 15577504.
71. 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, 105:162-164. 10.1016/S0002-9343(98)00200-9, 9727824.
72. 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. 10.1038/sj.bmt.1702446, 10871737.
73. 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, 126:392-394. 10.1016/j.jaci.2010.05.005, 20584545.
74. 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, 144:93-99. 10.1016/S0022-3476(03)00449-9, 14722525.
75. Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers 2010, 29:131-139.
76. 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, Camcioǧlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, 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. 10.1016/j.jaci.2009.10.038, 2818862, 20004785.
77. 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, 119:4451-4461. 10.1182/blood-2012-01-407098, 3418773, 22461490.
78. 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, 13:612-620. 10.1038/ni.2305, 22581261.
79. 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, 208:2305-2320. 10.1084/jem.20110345, 3201196, 22006977.
80. Randall KL, Lambe T, Goodnow CC, Cornall RJ. The essential role of DOCK8 in humoral immunity. Dis Markers 2010, 29:141-150.
81. 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, 41:3423-3435. 10.1002/eji.201141759, 21969276.
82. 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, 32:698-708. 10.1007/s10875-012-9664-5, 22476911.
83. 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, 46:552-556. 10.1038/bmt.2010.169, 20622910.
84. 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, 222:351-355. 10.1055/s-0030-1265135, 21058221.
85. 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, 128:420-422. 10.1016/j.jaci.2011.03.025, 21546070.
86. Metin A, Tavil B, Azi{dotless}k 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, 16:398-399. 10.1111/j.1399-3046.2011.01641.x, 22248482.
87. 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, 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. 10.1016/j.immuni.2006.09.009, 17088085.
88. 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, 160:1055-1057. 10.1016/j.jpeds.2012.01.056, 22402565.
89. 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, 155:390-392. 10.1007/BF01955268, 8741037.
90. Boeck A, Gfatter R, Braun F, Fritz B. Pentasomy × and hyper IgE syndrome: co-existence of two distinct genetic disorders. Eur J Pediatr 1999, 158:723-726. 10.1007/s004310051187, 10485303.
91. 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, 104:53-56. 10.1002/ajmg.10007, 11746028.