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268 results

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Page 1
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.
Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S. Speckmann C, et al. Among authors: ehl s. Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31. Clin Immunol. 2013. PMID: 23973892
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Müller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S. Enders A, et al. Among authors: ehl s. Blood. 2006 Jul 1;108(1):81-7. doi: 10.1182/blood-2005-11-4413. Epub 2006 Mar 21. Blood. 2006. PMID: 16551969 Free article.
Common variable immunodeficiency in children.
Glocker E, Ehl S, Grimbacher B. Glocker E, et al. Among authors: ehl s. Curr Opin Pediatr. 2007 Dec;19(6):685-92. doi: 10.1097/MOP.0b013e3282f1ddd5. Curr Opin Pediatr. 2007. PMID: 18025937 Review.
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Speckmann C, Pannicke U, Wiech E, Schwarz K, Fisch P, Friedrich W, Niehues T, Gilmour K, Buiting K, Schlesier M, Eibel H, Rohr J, Superti-Furga A, Gross-Wieltsch U, Ehl S. Speckmann C, et al. Among authors: ehl s. Blood. 2008 Nov 15;112(10):4090-7. doi: 10.1182/blood-2008-04-153361. Epub 2008 Aug 26. Blood. 2008. PMID: 18728247 Free article.
Reduced memory B cells in patients with hyper IgE syndrome.
Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, Rohr J, Jakob T, Oswald E, Kopp MV, Sanal O, Litzman J, Plebani A, Pietrogrande MC, Franco JL, Espanol T, Grimbacher B, Ehl S. Speckmann C, et al. Among authors: ehl s. Clin Immunol. 2008 Dec;129(3):448-54. doi: 10.1016/j.clim.2008.08.002. Epub 2008 Oct 2. Clin Immunol. 2008. PMID: 18835223
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K. Pannicke U, et al. Among authors: ehl s. Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168. Hum Mutat. 2010. PMID: 19953608
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. McCarl CA, et al. Among authors: ehl s. J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. J Allergy Clin Immunol. 2009. PMID: 20004786 Free PMC article.
268 results