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Page 1
Heritable defects of the human TLR signalling pathways.
Puel A, Yang K, Ku CL, von Bernuth H, Bustamante J, Santos OF, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL. Puel A, et al. Among authors: von bernuth h. J Endotoxin Res. 2005;11(4):220-4. doi: 10.1179/096805105X37367. J Endotoxin Res. 2005. PMID: 16176658 Review.
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Soomann M, Bily V, Elgizouli M, Kraemer D, Akgül G, von Bernuth H, Bloomfield M, Brodszki N, Candotti F, Förster-Waldl E, Freiberger T, Giżewska M, Klocperk A, Kölsch U, Nichols KE, Krüger R, Oak N, Pac M, Prader S, Schmiegelow K, Šedivá A, Sogkas G, Stittrich A, Stoltze UK, Theodoropoulou K, Wadt K, Wong M, Zeyda M, Pachlopnik Schmid J, Trück J. Soomann M, et al. Among authors: von bernuth h. J Allergy Clin Immunol. 2024 Nov;154(5):1313-1324.e7. doi: 10.1016/j.jaci.2024.08.002. Epub 2024 Aug 13. J Allergy Clin Immunol. 2024. PMID: 39147326 Free article. Review.
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O, Klein J, Thee S, Ullrich J, Wahn V, Unterwalder N, Kölsch U, Lankes E, Stittrich A, Dedieu C, Dinges S, Völler M, Schuetz C, Schulte J, Boztug K, Meisel C, Kuehl JS, Krüger R, Blankenstein O, von Bernuth H. Staudacher O, et al. Among authors: von bernuth h. J Allergy Clin Immunol Pract. 2023 Sep;11(9):2872-2883. doi: 10.1016/j.jaip.2023.06.006. Epub 2023 Jun 9. J Allergy Clin Immunol Pract. 2023. PMID: 37302792
From idiopathic infectious diseases to novel primary immunodeficiencies.
Casanova JL, Fieschi C, Bustamante J, Reichenbach J, Remus N, von Bernuth H, Picard C. Casanova JL, et al. Among authors: von bernuth h. J Allergy Clin Immunol. 2005 Aug;116(2):426-30. doi: 10.1016/j.jaci.2005.03.053. J Allergy Clin Immunol. 2005. PMID: 16083801
165 results