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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.
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. Renner ED, et al. Among authors: rylaarsdam s. J Allergy Clin Immunol. 2008 Jul;122(1):181-7. doi: 10.1016/j.jaci.2008.04.037. J Allergy Clin Immunol. 2008. PMID: 18602572 Free PMC article.
STAT3 mutation in the original patient with Job's syndrome.
Renner ED, Torgerson TR, Rylaarsdam S, Añover-Sombke S, Golob K, LaFlam T, Zhu Q, Ochs HD. Renner ED, et al. Among authors: rylaarsdam s. N Engl J Med. 2007 Oct 18;357(16):1667-8. doi: 10.1056/NEJMc076367. N Engl J Med. 2007. PMID: 17942886 No abstract available.
Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD. Renner ED, et al. Among authors: rylaarsdam s. J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. J Allergy Clin Immunol. 2009. PMID: 19683336 Free PMC article.
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
Meyer-Bahlburg A, Renner ED, Rylaarsdam S, Reichenbach J, Schimke LF, Marks A, Tcheurekdjian H, Hostoffer R, Brahmandam A, Torgerson TR, Belohradsky BH, Rawlings DJ, Ochs HD. Meyer-Bahlburg A, et al. Among authors: rylaarsdam s. J Allergy Clin Immunol. 2012 Feb;129(2):559-62, 562.e1-2. doi: 10.1016/j.jaci.2011.09.017. Epub 2011 Oct 26. J Allergy Clin Immunol. 2012. PMID: 22030463 No abstract available.
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. Among authors: rylaarsdam s. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.
Cruz PD, Rylaarsdam S, Torgerson TR, Hagin D, Allenspach EJ. Cruz PD, et al. Among authors: rylaarsdam s. J Clin Immunol. 2023 Nov;43(8):1747-1750. doi: 10.1007/s10875-023-01557-w. Epub 2023 Jul 22. J Clin Immunol. 2023. PMID: 37481508 No abstract available.