pädiatrie hautnah

, Volume 24, Issue 5, pp 330–335 | Cite as

Hyper-IgE-Syndrome

Frühzeitige Diagnose für Lebensqualität essenziell
  • Beate Hagl
  • Valerie Heinz
  • Anne Langenbeck
  • Ellen D. Renner
Fortbildung
  • 21 Downloads

Ein hohes IgE im Serum und ein Ekzem sind meist die ersten Symptome, die den Verdacht auf ein Hyper-IgE-Syndrom aufkommen lassen. Doch wann ist es Neurodermitis und wann muss an angeborene Immundefekte wie die Hyper-IgE-Syndrome gedacht werden?

Literatur

  1. 1.
    Bittner, T.C., U. Pannicke, E.D. Renner, G. Notheis, F. Hoffmann, B.H. Belohradsky, U. Wintergerst, M. Hauser, B. Klein, K. Schwarz, I. Schmid, and M.H. Albert. Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin Padiatr 2010; 222: 351–355PubMedCrossRefGoogle Scholar
  2. 2.
    Buckley, R.H., B.B. Wray, and E.Z. Belmaker. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 1972; 49: 59–70PubMedGoogle Scholar
  3. 3.
    Chandesris, M.O., I. Melki, A. Natividad, A. Puel, C. Fieschi, L. Yun, C. Thumerelle, E. Oksenhendler, D. Boutboul, C. Thomas, C. Hoarau, Y. Lebranchu, J.L. Stephan, C. Cazorla, N. Aladjidi, M. Micheau, F. Tron, A. Baruchel, V. Barlogis, G. Palenzuela, C. Mathey, S. Dominique, G. Body, M. Munzer, F. Fouyssac, R. Jaussaud, B. Bader-Meunier, N. Mahlaoui, S. Blanche, M. Debre, M. Le Bourgeois, V. Gandemer, N. Lambert, V. Grandin, S. Ndaga, C. Jacques, C. Harre, M. Forveille, M.A. Alyanakian, A. Durandy, C. Bodemer, F. Suarez, O. Hermine, O. Lortholary, J.L. Casanova, A. Fischer, and C. Picard. 2012. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome: Molecular, Cellular, and Clinical Features From a French National Survey. Medicine (Baltimore) 2012; 91:e1–19CrossRefGoogle Scholar
  4. 4.
    Davis, S.D., J. Schaller, and R.J. Wedgwood. Job,s Syndrome. Recurrent, „cold“, staphylococcal abscesses. Lancet 1966; 1:1013–1015PubMedCrossRefGoogle Scholar
  5. 5.
    Engelhardt, K.R., S. McGhee, S. Winkler, A. Sassi, C. Woellner, G. Lopez-Herrera, A. Chen, H.S. Kim, M.G. Lloret, I. Schulze, S. Ehl, J. Thiel, D. Pfeifer, H. Veelken, T. Niehues, K. Siepermann, S. Weinspach, I. Reisli, S. Keles, F. Genel, N. Kutukculer, Y. Camcioglu, A. Somer, E. Karakoc-Aydiner, I. Barlan, A. Gennery, A. Metin, A. Degerliyurt, M.C. Pietrogrande, M. Yeganeh, Z. Baz, S. Al-Tamemi, C. Klein, J.M. Puck, S.M. Holland, E.R. McCabe, B. Grimbacher, and T.A. Chatila. 2009. 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.PubMedCrossRefGoogle Scholar
  6. 6.
    Goussetis, E., I. Peristeri, V. Kitra, J. Traeger-Synodinos, M. Theodosaki, K. Psarra, M. Kanariou, F. Tzortzatou-Stathopoulou, E. Petrakou, I. Fylaktou, E. Kanavakis, and S. Graphakos. 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: 392–394PubMedCrossRefGoogle Scholar
  7. 7.
    Grimbacher, B., A.A. Schaffer, S.M. Holland, J. Davis, J.I. Gallin, H.L. Malech, T.P. Atkinson, B.H. Belohradsky, R.H. Buckley, F. Cossu, T. Espanol, B.Z. Garty, N. Matamoros, L.A. Myers, R.P. Nelson, H.D. Ochs, E.D. Renner, N. Wellinghausen, and J.M. Puck. 1999. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65:735–744.PubMedCrossRefGoogle Scholar
  8. 8.
    Holland, S.M., F.R. DeLeo, H.Z. Elloumi, A.P. Hsu, G. Uzel, N. Brodsky, A.F. Freeman, A. Demidowich, J. Davis, M.L. Turner, V.L. Anderson, D.N. Darnell, P.A. Welch, D.B. Kuhns, D.M. Frucht, H.L. Malech, J.I. Gallin, S.D. Kobayashi, A.R. Whitney, J.M. Voyich, J.M. Musser, C. Woellner, A.A. Schaffer, J.M. Puck, and B. Grimbacher. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007; 357: 1608–1619PubMedCrossRefGoogle Scholar
  9. 9.
    Kilic, S.S., M. Hacimustafaoglu, S. Boisson-Dupuis, A.Y. Kreins, A.V. Grant, L. Abel, and J.L. Casanova. A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome. J Pediatr 2012; 160: 1055–1057PubMedCrossRefGoogle Scholar
  10. 10.
    Meyer-Bahlburg, A., E.D. Renner, S. Rylaarsdam, J. Reichenbach, L.F. Schimke, A. Marks, H. Tcheurekdjian, R. Hostoffer, A. Brahmandam, T.R. Torgerson, B.H. Belohradsky, D.J. Rawlings, and H.D. Ochs. 2012. 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 e552PubMedCrossRefGoogle Scholar
  11. 11.
    Milner, J.D., J.M. Brenchley, A. Laurence, A.F. Freeman, B.J. Hill, K.M. Elias, Y. Kanno, C. Spalding, H.Z. Elloumi, M.L. Paulson, J. Davis, A. Hsu, A.I. Asher, J. O’Shea, S.M. Holland, W.E. Paul, and D.C. Douek. 2008. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 2008; 452:773–776PubMedCrossRefGoogle Scholar
  12. 12.
    Minegishi, Y., and H. Karasuyama. Genetic origins of hyper-IgE syndrome. Curr Allergy Asthma Rep 2008; 8: 386–391PubMedCrossRefGoogle Scholar
  13. 13.
    Minegishi, Y., M. Saito, T. Morio, K. Watanabe, K. Agematsu, S. Tsuchiya, H. Takada, T. Hara, N. Kawamura, T. Ariga, H. Kaneko, N. Kondo, I. Tsuge, A. Yachie, Y. Sakiyama, T. Iwata, F. Bessho, T. Ohishi, K. Joh, K. Imai, K. Kogawa, M. Shinohara, M. Fujieda, H. Wakiguchi, S. Pasic, M. Abinun, H.D. Ochs, E.D. Renner, A. Jansson, B.H. Belohradsky, A. Metin, N. Shimizu, S. Mizutani, T. Miyawaki, S. Nonoyama, and H. Karasuyama. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006; 25:745–755PubMedCrossRefGoogle Scholar
  14. 14.
    Minegishi, Y., M. Saito, S. Tsuchiya, I. Tsuge, H. Takada, T. Hara, N. Kawamura, T. Ariga, S. Pasic, O. Stojkovic, A. Metin, and H. Karasuyama. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007; 448: 1058–1062PubMedCrossRefGoogle Scholar
  15. 15.
    Renner, E.D., D. Hartl, S. Rylaarsdam, M.L. Young, L. Monaco-Shawver, G. Kleiner, M.L. Markert, E.R. Stiehm, B.H. Belohradsky, M.P. Upton, T.R. Torgerson, J.S. Orange, and H.D. Ochs. Comel-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 2009; 124: 536–543PubMedCrossRefGoogle Scholar
  16. 16.
    Renner, E.D., J.M. Puck, S.M. Holland, M. Schmitt, M. Weiss, M. Frosch, M. Bergmann, J. Davis, B.H. Belohradsky, and B. Grimbacher. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004; 144: 93–99PubMedCrossRefGoogle Scholar
  17. 17.
    Renner, E.D., S. Rylaarsdam, S. Anover-Sombke, A.L. Rack, J. Reichenbach, J.C. Carey, Q. Zhu, A.F. Jansson, J. Barboza, L.F. Schimke, M.F. Leppert, M.M. Getz, R.A. Seger, H.R. Hill, B.H. Belohradsky, T.R. Torgerson, and H.D. Ochs. 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: 181–187PubMedCrossRefGoogle Scholar
  18. 18.
    Renner, E.D., T.R. Torgerson, S. Rylaarsdam, S. Anover-Sombke, K. Golob, T. LaFlam, Q. Zhu, and H.D. Ochs. STAT3 mutation in the original patient with Job’s syndrome. N Engl J Med 2007; 357:1667–1668PubMedCrossRefGoogle Scholar
  19. 19.
    Schimke, L.F., J. Sawalle-Belohradsky, J. Roesler, A. Wollenberg, A. Rack, M. Borte, N. Rieber, R. Cremer, E. Maass, R. Dopfer, J. Reichenbach, V. Wahn, M. Hoenig, A.F. Jansson, A. Roesen-Wolff, B. Schaub, R. Seger, H.R. Hill, H.D. Ochs, T.R. Torgerson, B.H. Belohradsky, and E.D. Renner. 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 e611PubMedCrossRefGoogle Scholar
  20. 20.
    Sowerwine, K.J., S.M. Holland, and A.F. Freeman. Hyper-IgE syndrome update. Ann N Y Acad Sci 2012;1250: 25–32PubMedCrossRefGoogle Scholar
  21. 21.
    Speckmann, C., A. Enders, C. Woellner, D. Thiel, A. Rensing-Ehl, M. Schlesier, J. Rohr, T. Jakob, E. Oswald, M.V. Kopp, O. Sanal, J. Litzman, A. Plebani, M.C. Pietrogrande, J.L. Franco, T. Espanol, B. Grimbacher, and S. Ehl. Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol 2008; 129: 448–454PubMedCrossRefGoogle Scholar
  22. 22.
    Zhang, Q., J.C. Davis, I.T. Lamborn, A.F. Freeman, H. Jing, A.J. Favreau, H.F. Matthews, J. Davis, M.L. Turner, G. Uzel, S.M. Holland, and H.C. Su. Combined Immunodeficiency Associated with DOCK8 Mutations. N Engl J Med 2009; 361: 2046–2055PubMedCrossRefGoogle Scholar

Copyright information

© Urban & Vogel 2012

Authors and Affiliations

  • Beate Hagl
  • Valerie Heinz
  • Anne Langenbeck
  • Ellen D. Renner
    • 1
  1. 1.MünchenDeutschland

Personalised recommendations