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Page 1
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: kolsch u. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Howard MF, et al. Among authors: kolsch u. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439110 Free PMC article.
Late-Onset Disseminated Mycobacterium avium intracellulare Complex Infection (MAC), Cerebral Toxoplasmosis and Salmonella Sepsis in a German Caucasian Patient with Unusual Anti-Interferon-Gamma IgG1 Autoantibodies.
Hanitsch LG, Löbel M, Müller-Redetzky H, Schürmann M, Suttorp N, Unterwalder N, Mönnich U, Meisel C, Wittke K, Volk HD, Scheibenbogen C, Kölsch U. Hanitsch LG, et al. Among authors: kolsch u. J Clin Immunol. 2015 May;35(4):361-5. doi: 10.1007/s10875-015-0161-5. Epub 2015 Apr 15. J Clin Immunol. 2015. PMID: 25875701
Untimely TGFβ responses in COVID-19 limit antiviral functions of NK cells.
Witkowski M, Tizian C, Ferreira-Gomes M, Niemeyer D, Jones TC, Heinrich F, Frischbutter S, Angermair S, Hohnstein T, Mattiola I, Nawrath P, McEwen S, Zocche S, Viviano E, Heinz GA, Maurer M, Kölsch U, Chua RL, Aschman T, Meisel C, Radke J, Sawitzki B, Roehmel J, Allers K, Moos V, Schneider T, Hanitsch L, Mall MA, Conrad C, Radbruch H, Duerr CU, Trapani JA, Marcenaro E, Kallinich T, Corman VM, Kurth F, Sander LE, Drosten C, Treskatsch S, Durek P, Kruglov A, Radbruch A, Mashreghi MF, Diefenbach A. Witkowski M, et al. Among authors: kolsch u. Nature. 2021 Dec;600(7888):295-301. doi: 10.1038/s41586-021-04142-6. Epub 2021 Oct 25. Nature. 2021. PMID: 34695836
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: kolsch u. 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
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: kolsch u. 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.
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
Heller S, Kölsch U, Magg T, Krüger R, Scheuern A, Schneider H, Eichinger A, Wahn V, Unterwalder N, Lorenz M, Schwarz K, Meisel C, Schulz A, Hauck F, von Bernuth H. Heller S, et al. Among authors: kolsch u. J Clin Immunol. 2020 Apr;40(3):421-434. doi: 10.1007/s10875-019-00728-y. Epub 2020 Jan 21. J Clin Immunol. 2020. PMID: 31965418
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies.
Akbil B, Meyer T, Stubbemann P, Thibeault C, Staudacher O, Niemeyer D, Jansen J, Mühlemann B, Doehn J, Tabeling C, Nusshag C, Hirzel C, Sanchez DS, Nieters A, Lother A, Duerschmied D, Schallner N, Lieberum JN, August D, Rieg S, Falcone V, Hengel H, Kölsch U, Unterwalder N, Hübner RH, Jones TC, Suttorp N, Drosten C, Warnatz K, Spinetti T, Schefold JC, Dörner T, Sander LE, Corman VM, Merle U; Pa-COVID study Group; Kurth F, von Bernuth H, Meisel C, Goffinet C. Akbil B, et al. Among authors: kolsch u. J Clin Immunol. 2022 Aug;42(6):1111-1129. doi: 10.1007/s10875-022-01252-2. Epub 2022 May 5. J Clin Immunol. 2022. PMID: 35511314 Free PMC article.
37 results