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Page 1
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder DK, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogala W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Koltan S MD, PhD, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah SA, Schulz AS, Segundo GR, Shcherbina A, Slatter MA, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B MD, PhD, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH. Vallée TC, et al. Among authors: dueckers g. Blood. 2024 Apr 5:blood.2023021411. doi: 10.1182/blood.2023021411. Online ahead of print. Blood. 2024. PMID: 38579284
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. Jansen EJ, et al. Among authors: dueckers g. Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600. Nat Commun. 2016. PMID: 27231034 Free PMC article.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. Engelhardt KR, et al. Among authors: dueckers g. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. J Allergy Clin Immunol. 2015. PMID: 25724123 Free PMC article.
Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.
Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD. Turley AJ, et al. Among authors: dueckers g. J Clin Immunol. 2015 Feb;35(2):199-205. doi: 10.1007/s10875-015-0137-5. Epub 2015 Feb 8. J Clin Immunol. 2015. PMID: 25663093
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Schubert D, et al. Among authors: dueckers g. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20. Nat Med. 2014. PMID: 25329329 Free PMC article.
Autoinflammatory diseases (AID).
Dueckers G, Sander O, Niehues T. Dueckers G, et al. Klin Padiatr. 2014 May;226(3):133-42. doi: 10.1055/s-0034-1366987. Epub 2014 May 12. Klin Padiatr. 2014. PMID: 24819385 Review.
Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study.
Jeske M, Lohse P, Kallinich T, Berger T, Rietschel C, Holzinger D, Kamlah C, Lankisch P, Berendes R, Dueckers G, Horneff G, Lilienthal E, Haas JP, Giese A, Dressler F, Berrang J, Braunewell L, Neudorf U, Niehues T, Föll D, Lainka E. Jeske M, et al. Among authors: dueckers g. Klin Padiatr. 2013 Nov;225(6):325-30. doi: 10.1055/s-0033-1355372. Epub 2013 Oct 24. Klin Padiatr. 2013. PMID: 24158885
The German national registry for primary immunodeficiencies (PID).
Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Krüger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Groß-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B, Kindle G. Gathmann B, et al. Among authors: dueckers g. Clin Exp Immunol. 2013 Aug;173(2):372-80. doi: 10.1111/cei.12105. Clin Exp Immunol. 2013. PMID: 23607573 Free PMC article.
[Interdisciplinary AWMF guideline for the treatment of primary antibody deficiencies].
Krudewig J, Baumann U, Bernuth von H, Borte M, Burkhard-Meier U, Dueckers G, Foerster-Waldl E, Franke K, Habermehl P, Hönig M, Kern W, Kösters K, Kugel K, Lehrnbecher T, Liese J, Marks R, Müller GA, Müller R, Nadal D, Peter HH, Pfeiffer-Kascha D, Schneider M, Sitter H, Späth P, Wahn V, Welte T, Niehues T; Arbeitsgemeinschaft Pädiatrische Immunologie e. V. (API). Krudewig J, et al. Among authors: dueckers g. Klin Padiatr. 2012 Oct;224(6):404-15. doi: 10.1055/s-0032-1323837. Epub 2012 Nov 9. Klin Padiatr. 2012. PMID: 23143768 German.
19 results