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Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.
Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, Magg T, Boos AC, Hönig M, Schwarz K, Dückers G, von Bernuth H, Pache C, Karitnig-Weiss C, Belohradsky BH, Frank J, Niehues T, Wahn V, Albert MH, Wollenberg A, Jansson AF, Renner ED. Hagl B, et al. Among authors: niehues t. Pediatr Allergy Immunol. 2016 Mar;27(2):177-84. doi: 10.1111/pai.12512. Epub 2016 Jan 26. Pediatr Allergy Immunol. 2016. PMID: 26592211
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T. Schuetz C, et al. Among authors: niehues t. N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966. N Engl J Med. 2008. PMID: 18463379 Free article.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
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, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Woellner C, et al. Among authors: niehues t. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059. J Allergy Clin Immunol. 2010. PMID: 20159255 Free PMC article.
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).
Spielberger BD, Woellner C, Dueckers G, Sawalle-Belohradsky J, Hagl B, Anslinger K, Bayer B, Siepermann K, Niehues T, Grimbacher B, Belohradsky BH, Renner ED. Spielberger BD, et al. Among authors: niehues t. J Allergy Clin Immunol. 2012 Dec;130(6):1426-8. doi: 10.1016/j.jaci.2012.07.030. Epub 2012 Sep 13. J Allergy Clin Immunol. 2012. PMID: 22981789 No abstract available.
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.
Schuetz C, Pannicke U, Jacobsen EM, Burggraf S, Albert MH, Hönig M, Niehues T, Feyen O, Ehl S, Debatin KM, Friedrich W, Schulz AS, Schwarz K. Schuetz C, et al. Among authors: niehues t. J Allergy Clin Immunol. 2014 Apr;133(4):1211-5. doi: 10.1016/j.jaci.2013.10.021. Epub 2013 Dec 10. J Allergy Clin Immunol. 2014. PMID: 24331380 No abstract available.
234 results