Ehl SR - Search Results

1

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW. Speckmann C, et al. Among authors: ehl sr. Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017. Front Immunol. 2017. PMID: 28507545 Free PMC article.

2

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S. Enders A, et al. J Pediatr. 2004 Nov;145(5):698-700. doi: 10.1016/j.jpeds.2004.06.065. J Pediatr. 2004. PMID: 15520784

3

A variant of SCID with specific immune responses and predominance of gamma delta T cells.

Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kühr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P. Ehl S, et al. J Clin Invest. 2005 Nov;115(11):3140-8. doi: 10.1172/JCI25221. Epub 2005 Oct 6. J Clin Invest. 2005. PMID: 16211094 Free PMC article.

4

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.

Rössler J, Enders A, Lahr G, Heitger A, Winkler K, Fuchs H, Kopp M, Niemeyer C, Ehl S. Rössler J, et al. J Pediatr. 2005 Nov;147(5):691-4. doi: 10.1016/j.jpeds.2005.07.027. J Pediatr. 2005. PMID: 16291365

5

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. 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.

6

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S. Enders A, et al. J Immunol. 2006 Apr 15;176(8):5060-8. doi: 10.4049/jimmunol.176.8.5060. J Immunol. 2006. PMID: 16585603

7

Polymyositis--an unusual presentation of cGvHD in children.

Klein R, Franck P, Ehl S, Schmitt-Graeff A, Duffner U, Niemeyer CM. Klein R, et al. Pediatr Transplant. 2007 Mar;11(2):225-7. doi: 10.1111/j.1399-3046.2006.00615.x. Pediatr Transplant. 2007. PMID: 17300507

8

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. 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.

9

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. 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

10

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. Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168. Hum Mutat. 2010. PMID: 19953608

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