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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.
The spinal cord injury-induced immune deficiency syndrome: results of the SCIentinel study.
Kopp MA, Meisel C, Liebscher T, Watzlawick R, Cinelli P, Schweizerhof O, Blex C, Lübstorf T, Prilipp E, Niedeggen A, Druschel C, Schaser KD, Wanner GA, Curt A, Lindemann G, Nugeva N, Fehlings MG, Vajkoczy P, Cabraja M, Dengler J, Ertel W, Ekkernkamp A, Rehahn K, Martus P, Volk HD, Unterwalder N, Kölsch U, Brommer B, Hellmann RC, Baumgartner E, Hirt J, Geurtz LC, Saidy RRO, Prüss H, Laginha I, Failli V, Grittner U, Dirnagl U, Schwab JM. Kopp MA, et al. Among authors: kolsch u. Brain. 2023 Aug 1;146(8):3500-3512. doi: 10.1093/brain/awad092. Brain. 2023. PMID: 37370200 Free PMC article.
Relieving job: Dupilumab in autosomal dominant STAT3 hyper-IgE syndrome.
Staudacher O, Krüger R, Kölsch U, Thee S, Gratopp A, Wahn V, Lau S, von Bernuth H. Staudacher O, et al. Among authors: kolsch u. J Allergy Clin Immunol Pract. 2022 Jan;10(1):349-351.e1. doi: 10.1016/j.jaip.2021.08.042. Epub 2021 Sep 16. J Allergy Clin Immunol Pract. 2022. PMID: 34536614 No abstract available.
The expansion of human T-bethighCD21low B cells is T cell dependent.
Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G, Boerries M, Felixberger PT, Landry JJM, Nieters A, Rensing-Ehl A, Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I, Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS, Rosenzweig SD, Kölsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia Garcia A, Alsina L, Markelj G, Avcin T, Vasconcelos J, Guedes M, Ding JY, Ku CL, Shadur B, Avery DT, Venhoff N, Thiel J, Becker H, Erazo-Borrás L, Trujillo-Vargas CM, Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova JL, Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M, Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG, Warnatz K. Keller B, et al. Among authors: kolsch u. Sci Immunol. 2021 Oct 15;6(64):eabh0891. doi: 10.1126/sciimmunol.abh0891. Epub 2021 Oct 8. Sci Immunol. 2021. PMID: 34623902
Infectious and immunologic phenotype of MECP2 duplication syndrome.
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H. Bauer M, et al. Among authors: kolsch u. J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27. J Clin Immunol. 2015. PMID: 25721700 Free PMC article.
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
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: kolsch u. 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.
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
37 results