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Neurodermitis oder Hyper-IgE-Syndrom?

Atopic dermatitis or hyper-IgE syndrome?

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hautnah Aims and scope

Zusammenfassung

Ekzem und erhöhtes Immunglobulin E (IgE) im Serum 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? Hyper-IgE-Syndrome sind selten, aber eine frühe Diagnosestellung ist lebenswichtig für den einzelnen Patienten. Es ist deshalb von großer Bedeutung genauer hinzusehen, die Besonderheiten der Hyper-IgE-Syndrome zu (er)kennen und die richtigen Konsequenzen für den individuellen Patienten zu ziehen.

Abstract

Eczema and elevated serum immunoglobulin E (IgE) are often the first signs that raise the suspicion of hyper-IgE syndrome. However, when are the symptoms due to atopic dermatitis and when should a primary immunodeficiency, such as hyper-IgE syndrome be considered? Hyper-IgE syndromes are rare but early diagnosis is vital for the individual patient. Thus, it is important to carefully evaluate, to know and recognize the characteristics of hyper-IgE syndrome and to draw the right conclusions for individual patients.

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Literatur

  1. Davis SD, Schaller J, Wedgwood RJ (1966) Job’s syndrome. Recurrent, „cold“, staphylococcal abscesses. Lancet 1:1013–1015

    Article  CAS  PubMed  Google Scholar 

  2. Buckley RH, Wray BB, Belmaker EZ (1972) Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 49:59–70

    CAS  PubMed  Google Scholar 

  3. Renner ED, Puck JM, Holland SM et al (2004) Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144:93–99

    Article  CAS  PubMed  Google Scholar 

  4. Minegishi Y, Saito M, Morio T et al (2006) Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 25:745–755

    Article  CAS  PubMed  Google Scholar 

  5. Sowerwine KJ, Holland SM, Freeman AF (2012) Hyper-IgE syndrome update. Ann N Y Acad Sci 1250:25–32

    Article  CAS  PubMed  Google Scholar 

  6. Minegishi Y, Saito M, Tsuchiya S et al (2007) Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448:1058–1062

    Article  CAS  PubMed  Google Scholar 

  7. Holland SM, DeLeo FR, Elloumi HZ et al (2007) STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 357:1608–1619

    Article  CAS  PubMed  Google Scholar 

  8. Renner ED, Torgerson TR, Rylaarsdam S et al (2007) STAT3 mutation in the original patient with Job’s syndrome. N Engl J Med 357:1667–1668

    Article  CAS  PubMed  Google Scholar 

  9. Renner ED, Rylaarsdam S, Anover-Sombke S et al (2008) 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 122:181–187

    Article  CAS  PubMed  Google Scholar 

  10. Chandesris MO, Melki I, Natividad A et al (2012) Autosomal dominant STAT3 deficiency and hyper-ige syndrome: molecular, cellular, and clinical features from a french national survey. Medicine (Baltimore) 91:e1–e19

  11. Schimke LF, Sawalle-Belohradsky J, Roesler J et al (2010) Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol 126:611–617 e1

    Article  CAS  PubMed  Google Scholar 

  12. Milner JD, Brenchley JM, Laurence A et al (2008) Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 452:773–776

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Minegishi Y, Karasuyama H (2008) Genetic origins of hyper-IgE syndrome. Curr Allergy Asthma Rep 8:386–391

    Article  CAS  PubMed  Google Scholar 

  14. Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S et al (2012) A patient with tyrosine kinase 2 deficiency without Hyper-IgE Syndrome. J Pediatr 160:1055–1057

    Article  PubMed Central  PubMed  Google Scholar 

  15. Zhang Q, Davis JC, Lamborn IT et al (2009) Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 361:2046–2055

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  16. Engelhardt KR, McGhee S, Winkler S et al (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 124:1289–1302 e4

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  17. Grimbacher B, Schaffer AA, Holland SM et al (1999) Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65:735–744

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  18. Renner ED, Hartl D, Rylaarsdam S et al (2009) Comel-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 124:536–543

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  19. Meyer-Bahlburg A, Renner ED, Rylaarsdam S et al (2012) Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. J Allergy Clin Immunol 129:559–562 e2

    Article  CAS  PubMed  Google Scholar 

  20. Speckmann C, Enders A, Woellner C et al (2008) Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol 129:448–454

    Article  CAS  PubMed  Google Scholar 

  21. Freeman AF, Renner ED, Henderson C et al (2013) Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. J Clin Immunol 33:896–902

    Article  CAS  PubMed  Google Scholar 

  22. Bittner TC, Pannicke U, Renner ED et al (2010) Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin Padiatr 222:351–355

    Article  CAS  PubMed  Google Scholar 

  23. Goussetis E, Peristeri I, Kitra V et al (2010) Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J Allergy Clin Immunol 126:392–394

    Article  PubMed  Google Scholar 

  24. Boztug H, Karitnig-Weiss C, Ausserer B et al (2012) Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen. Pediatr Hematol Oncol 29:585–594

    CAS  PubMed  Google Scholar 

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Einhaltung ethischer Richtlinien

Interessenkonflikt. E.D. Renner, B. Hagl, A.C. Boos, V. Heinz, A. Schlesinger und B.D. Spielberger geben an, dass kein Interessenkonflikt besteht. Alle im vorliegenden Manuskript beschriebenen Untersuchungen am Menschen wurden mit Zustimmung der zuständigen Ethik-Kommission, im Einklang mit nationalem Recht sowie gemäß der Deklaration von Helsinki von 1975 (in der aktuellen, überarbeiteten Fassung) durchgeführt. Von allen beteiligten Patienten liegt eine Einverständniserklärung vor.

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Correspondence to E.D. Renner.

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Der Beitrag „Hyper-IgE-Syndrome erkennen“ aus pädiatrie hautnah 2012; 24 wurde für diesen Artikel aktualisiert und adaptiert.

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Hagl, B., Boos, A., Heinz, V. et al. Neurodermitis oder Hyper-IgE-Syndrom?. hautnah 13, 21–26 (2014). https://doi.org/10.1007/s12326-013-0092-y

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  • DOI: https://doi.org/10.1007/s12326-013-0092-y

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