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IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.
Isnardi I, Ng YS, Srdanovic I, Motaghedi R, Rudchenko S, von Bernuth H, Zhang SY, Puel A, Jouanguy E, Picard C, Garty BZ, Camcioglu Y, Doffinger R, Kumararatne D, Davies G, Gallin JI, Haraguchi S, Day NK, Casanova JL, Meffre E. Isnardi I, et al. Among authors: von bernuth h. Immunity. 2008 Nov 14;29(5):746-57. doi: 10.1016/j.immuni.2008.09.015. Immunity. 2008. PMID: 19006693 Free PMC article.
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Berghuis D, Mehyar LS, Abu-Arja R, Albert MH, Barnum JL, von Bernuth H, Elfeky R, Lewalle P, Laberko A, Ghosh S, Slatter MA, Weemaes CMR, Yesilipek A, Sirait T, Neven B, Gennery AR, Lankester AC; Inborn Errors Working Party (IEWP) of the European Society for Immunodeficiencies (ESID), the European Society for Blood and Marrow Transplantation (EBMT) and the European Reference Network that aims at improving the care of patients with rare immunological disorders (ERN-RITA). Berghuis D, et al. Among authors: von bernuth h. J Clin Immunol. 2024 Aug 21;44(8):182. doi: 10.1007/s10875-024-01786-7. J Clin Immunol. 2024. PMID: 39167297 Free PMC article.
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
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Eigemann J, Janda A, Schuetz C, Lee-Kirsch MA, Schulz A, Hoenig M, Furlan I, Jacobsen EM, Zinngrebe J, Peters S, Drewes C, Siebert R, Rump EM, Führer M, Lorenz M, Pannicke U, Kölsch U, Debatin KM, von Bernuth H, Schwarz K, Felgentreff K. Eigemann J, et al. Among authors: von bernuth h. J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. J Clin Immunol. 2024. PMID: 39264518 Free PMC article.
Multiple-breath washout to detect lung disease in patients with inborn errors of immunity.
Busack LM, Thee S, Liu Y, Allomba C, Ziegahn N, Tosolini A, Pioch CO, Schnorr AN, Fuhlrott BR, Staudacher O, Völler M, Steinke E, Hanitsch LG, Röhmel J, Wahn V, Krüger R, Mall MA, von Bernuth H, Stahl M. Busack LM, et al. Among authors: von bernuth h. ERJ Open Res. 2024 Mar 11;10(2):01019-2023. doi: 10.1183/23120541.01019-2023. eCollection 2024 Mar. ERJ Open Res. 2024. PMID: 38469376 Free PMC article.
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.
165 results