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Page 1
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: jacobsen em. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency.
Ege MJ, Schuetz C, Jacobsen EM, Müller-Langer SM, Furlan I, Sirin M, Pannicke U, Schwarz K, Debatin KM, Hönig M, Schulz A, Friedrich W. Ege MJ, et al. Among authors: jacobsen em. J Allergy Clin Immunol. 2019 Apr;143(4):1623-1626.e13. doi: 10.1016/j.jaci.2018.11.027. Epub 2018 Dec 7. J Allergy Clin Immunol. 2019. PMID: 30529243 No abstract available.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
Felgentreff K, Baumann U, Klemann C, Schuetz C, Viemann D, Wetzke M, Pannicke U, von Hardenberg S, Auber B, Debatin KM, Jacobsen EM, Hoenig M, Schulz A, Schwarz K. Felgentreff K, et al. Among authors: jacobsen em. J Clin Immunol. 2022 Feb;42(2):286-298. doi: 10.1007/s10875-021-01156-7. Epub 2021 Oct 30. J Clin Immunol. 2022. PMID: 34716846 Free PMC article.
A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation.
Lui VG, Hoenig M, Cabrera-Martinez B, Baxter RM, Garcia-Perez JE, Bailey O, Acharya A, Lundquist K, Capera J, Matusewicz P, Hartl FA, D'Abramo M, Alba J, Jacobsen EM, Niewolik D, Lorenz M, Pannicke U, Schulz AS, Debatin KM, Schamel WW, Minguet S, Gumbart JC, Dustin ML, Cambier JC, Schwarz K, Hsieh EWY. Lui VG, et al. Among authors: jacobsen em. J Exp Med. 2024 Jan 1;221(1):e20230927. doi: 10.1084/jem.20230927. Epub 2023 Nov 14. J Exp Med. 2024. PMID: 37962568 Free PMC article.
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: jacobsen em. 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.
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: jacobsen em. 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.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Hoenig M, et al. Among authors: jacobsen em. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22. Blood. 2017. PMID: 28331055 Free PMC article. Clinical Trial.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: jacobsen em. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.
Wu Z, Subramanian N, Jacobsen EM, Laib Sampaio K, van der Merwe J, Hönig M, Mertens T. Wu Z, et al. Among authors: jacobsen em. Microorganisms. 2019 Nov 10;7(11):546. doi: 10.3390/microorganisms7110546. Microorganisms. 2019. PMID: 31717670 Free PMC article.
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