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Page 1
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. Engelhardt KR, et al. Among authors: siepermann k. J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. J Allergy Clin Immunol. 2009. PMID: 20004785 Free PMC article.
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).
Spielberger BD, Woellner C, Dueckers G, Sawalle-Belohradsky J, Hagl B, Anslinger K, Bayer B, Siepermann K, Niehues T, Grimbacher B, Belohradsky BH, Renner ED. Spielberger BD, et al. Among authors: siepermann k. J Allergy Clin Immunol. 2012 Dec;130(6):1426-8. doi: 10.1016/j.jaci.2012.07.030. Epub 2012 Sep 13. J Allergy Clin Immunol. 2012. PMID: 22981789 No abstract available.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L. Alkhairy OK, et al. Among authors: siepermann k. J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3. J Allergy Clin Immunol. 2015. PMID: 25843314
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J, Hagel C, Ballmaier M, Klusmann JH, Niedermayer A, Pannicke U, Enders A, Dückers G, Siepermann K, Hempel J, Schwarz K, Viemann D. Niehues T, et al. Among authors: siepermann k. Eur J Immunol. 2020 Jul;50(7):1078-1080. doi: 10.1002/eji.201948504. Epub 2020 Apr 20. Eur J Immunol. 2020. PMID: 32181500 Free article.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group. Rensing-Ehl A, et al. J Allergy Clin Immunol. 2024 Jan;153(1):297-308.e12. doi: 10.1016/j.jaci.2023.11.006. Epub 2023 Nov 17. J Allergy Clin Immunol. 2024. PMID: 37979702
Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.
Rensing-Ehl A, Warnatz K, Fuchs S, Schlesier M, Salzer U, Draeger R, Bondzio I, Joos Y, Janda A, Gomes M, Abinun M, Hambleton S, Cant A, Shackley F, Flood T, Waruiru C, Beutel K, Siepermann K, Dueckers G, Niehues T, Wiesel T, Schuster V, Seidel MG, Minkov M, Sirkiä K, Kopp MV, Korhonen M, Schwarz K, Ehl S, Speckmann C. Rensing-Ehl A, et al. Among authors: siepermann k. Clin Immunol. 2010 Dec;137(3):357-65. doi: 10.1016/j.clim.2010.08.008. Epub 2010 Sep 15. Clin Immunol. 2010. PMID: 20832369
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M, Kinnunen M, Posadas-Cantera S, Camacho-Ordonez N, Abolhassani H, Alsina L, Atschekzei F, Bogaert DJ, Burns SO, Church JA, Dückers G, Freeman AF, Hammarström L, Hanitsch LG, Kerre T, Kobbe R, Sharapova SO, Siepermann K, Speckmann C, Steiner S, Verma N, Walter JE, Westermann-Clark E, Goldacker S, Warnatz K, Varjosalo M, Grimbacher B. Fliegauf M, et al. Among authors: siepermann k. Front Immunol. 2022 Aug 29;13:965326. doi: 10.3389/fimmu.2022.965326. eCollection 2022. Front Immunol. 2022. PMID: 36105815 Free PMC article.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A. Völkl S, et al. Among authors: siepermann k. Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20. Blood. 2016. PMID: 27099149 Free article. Clinical Trial.
Successful HLA haploidentical hematopoietic SCT in chronic granulomatous disease.
Hoenig M, Niehues T, Siepermann K, Jacobsen EM, Schütz C, Furlan I, Dückers G, Lahr G, Wiesneth M, Debatin KM, Friedrich W, Schulz A. Hoenig M, et al. Among authors: siepermann k. Bone Marrow Transplant. 2014 Oct;49(10):1337-8. doi: 10.1038/bmt.2014.125. Epub 2014 Jun 23. Bone Marrow Transplant. 2014. PMID: 24955782 No abstract available.
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.
Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B. Klemann C, et al. Among authors: siepermann k. Haematologica. 2017 Feb;102(2):e52-e56. doi: 10.3324/haematol.2016.153411. Epub 2016 Oct 27. Haematologica. 2017. PMID: 27789675 Free PMC article. No abstract available.
15 results