No Indication for a Defect in Toll-Like Receptor Signaling in Patients with Hyper-IgE Syndrome

Ellen D. Renner1, Ingo Pawlita1, Florian Hoffmann1, Veit Hornung2, Dominik Hartl1, Michael H. Albert1, Annette Jansson1, Stefan Endres2, Gunther Hartmann2, Bernd H. Belohradsky1, Simon Rothenfußer2
1University Children’s Hospital, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University, Munich, Germany
2Department of Internal Medicine, Division of Clinical Pharmacology, Ludwig-Maximilians-University, Munich, Germany

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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 340:692–702, 1999

Erlewyn-Lajeunesse MD: Hyperimmunoglobulin-E syndrome with recurrent infection: A review of current opinion and treatment. Pediatr Allergy Immunol 11:133–141, 2000

Belohradsky BH, Daumling S, Kiess W, Griscelli C: [The hyper-IgE-syndrome (Buckley- or Job-syndrome)]. Ergeb Inn Med Kinderheilkd 55:1–39, 1987

Buckley RH: The hyper-IgE syndrome. Clin Rev Allergy Immunol 20:139–154, 2001

Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM: Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med 1:213–218, 1999

Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Espanol 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 65:735–744, 1999

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 2:617–619, 1974

Hill HR, Quie PG: Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. Lancet 1:183–187, 1974

Donabedian H, Gallin JI: Two inhibitors of neutrophil chemotaxis are produced by hyperimmunoglobulin E recurrent infection syndrome mononuclear cells exposed to heat-killed staphylococci. Infect Immun 40:1030–1037, 1983

Borges WG, Augustine NH, Hill HR: Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. J Pediatr 136:176–180, 2000

Vercelli D, Jabara HH, Cunningham-Rundles C, Abrams JS, Lewis DB, Meyer J, Schneider LC, Leung DY, Geha RS: Regulation of immunoglobulin (Ig)E synthesis in the hyper-IgE syndrome. J Clin Invest 85:1666–1671, 1990

Ito R, Mori M, Katakura S, Kobayashi N, Naruto T, Osamura Y, Aihara Y, Yokota S: Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. Allergy 58:329–336, 2003

Ohga S, Nomura A, Ihara K, Takahata Y, Suga N, Akeda H, Shibata R, Okamura J, Kinukawa N, Hara T: Cytokine imbalance in hyper-IgE syndrome: Reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells. Br J Haematol 121:324–331, 2003

Chehimi J, Elder M, Greene J, Noroski L, Stiehm ER, Winkelstein JA, Sullivan KE: Cytokine and chemokine dysregulation in hyper-IgE syndrome. Clin Immunol 100:49–56, 2001

Martinez AM, Montoya CJ, Rugeles MT, Franco JL, Patino PJ: Abnormal expression of CD54 in mixed reactions of mononuclear cells from hyper-IgE syndrome patients. Mem Inst Oswaldo Cruz 99:159–165, 2004

Iwasaki A, Medzhitov R: Toll-like receptor control of the adaptive immune responses. 5:987–995, 2004

Akira S, Takeda K: Toll-like receptor signalling. Nat Rev Immunol 4:499–511, 2004

Cook DN, Pisetsky DS, Schwartz DA: Toll-like receptors in the pathogenesis of human disease. 5:975–979, 2004

Schnare M, Barton GM, Holt AC, Takeda K, Akira S, Medzhitov R: Toll-like receptors control activation of adaptive immune responses. Nat Immunol 2:947–950, 2001

Agnese DM, Calvano JE, Hahm SJ, Coyle SM, Corbett SA, Calvano SE, Lowry SF: Humanvadjust toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections. J Infect Dis 186:1522–1525, 2002

Takeuchi O, Hoshino K, Akira S: Cutting edge: TLR2-deficient and MyD88-deficient mice are highly susceptible to Staphylococcus aureus infection. J Immunol 165:5392–5396, 2000

Lorenz E, Mira JP, Cornish KL, Arbour NC, Schwartz DA: A novel polymorphism in the toll-like receptor 2 gene and its potential association with staphylococcal infection. Infect Immun 68:6398–6401, 2000

Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL: Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299:2076–2079, 2003

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 144:93–99, 2004

Rothenfusser S, Hornung V, Ayyoub M, Britsch S, Towarowski A, Krug A, Sarris A, Lubenow N, Speiser D, Endres S, Hartmann G: CpG-A and CpG-B oligonucleotides differentially enhance human peptide-specific primary and memory CD8+ T-cell responses in vitro. Blood 103:2162–2169, 2004

Simon D, Braathen LR, Simon HU: Eosinophils and atopic dermatitis. Allergy 59:561–570, 2004

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 141:572–575, 2002

Del Prete G, Tiri A, Maggi E, De Carli M, Macchia D, Parronchi P, Rossi ME, Pietrogrande MC, Ricci M, Romagnani S: Defective in vitro production of gamma-interferon and tumor necrosis factor-alpha by circulating T cells from patients with the hyper-immunoglobulin E syndrome. J Clin Invest 84:1830–1835, 1989

Gudmundsson KO, Sigurjonsson OE, Gudmundsson S, Goldblatt D, Weemaes CM, Haraldsson A: Increased expression of interleukin-13 but not interleukin-4 in CD4+ cells from patients with the hyper-IgE syndrome. Clin Exp Immunol 128:532–537, 2002

Geha RS, Jabara HH, Brodeur SR: The regulation of immunoglobulin E class-switch recombination. Nat Rev Immunol 3:721–732, 2003

Roeder A, Kirschning CJ, Rupec RA, Schaller M, Korting HC: Toll-like receptors and innate antifungal responses. Trends Microbiol 12:44–49, 2004

Picard C, Casanova JL: Inherited disorders of cytokines. Curr Opin Pediatr 16:648–658, 2004

Puel A, Picard C, Ku CL, Smahi A, Casanova JL: Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol 16:34–41, 2004

Gennery AR, Flood TJ, Abinun M, Cant AJ: Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplant 25:1303–1305, 2000

Cookson W: The immunogenetics of asthma and eczema: a new focus on the epithelium. Nat Rev Immunol 4:978–988, 2004