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A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT. Tesi B, et al. Among authors: ehl s. J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. J Allergy Clin Immunol. 2018. PMID: 29522846 Free PMC article. No abstract available.
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.
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S. Rohr J, et al. Among authors: ehl s. Haematologica. 2010 Dec;95(12):2080-7. doi: 10.3324/haematol.2010.029389. Epub 2010 Sep 7. Haematologica. 2010. PMID: 20823128 Free PMC article.
ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.
Maul-Pavicic A, Chiang SC, Rensing-Ehl A, Jessen B, Fauriat C, Wood SM, Sjöqvist S, Hufnagel M, Schulze I, Bass T, Schamel WW, Fuchs S, Pircher H, McCarl CA, Mikoshiba K, Schwarz K, Feske S, Bryceson YT, Ehl S. Maul-Pavicic A, et al. Among authors: ehl s. Proc Natl Acad Sci U S A. 2011 Feb 22;108(8):3324-9. doi: 10.1073/pnas.1013285108. Epub 2011 Feb 7. Proc Natl Acad Sci U S A. 2011. PMID: 21300876 Free PMC article.
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.
Jessen B, Maul-Pavicic A, Ufheil H, Vraetz T, Enders A, Lehmberg K, Längler A, Gross-Wieltsch U, Bay A, Kaya Z, Bryceson YT, Koscielniak E, Badawy S, Davies G, Hufnagel M, Schmitt-Graeff A, Aichele P, Zur Stadt U, Schwarz K, Ehl S. Jessen B, et al. Among authors: ehl s. Blood. 2011 Oct 27;118(17):4620-9. doi: 10.1182/blood-2011-05-356113. Epub 2011 Aug 30. Blood. 2011. PMID: 21878672 Free article.
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.
Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, Maul-Pavicic A, Bass T, Vraetz T, Strahm B, Ankermann T, Benson M, Caliebe A, Fölster-Holst R, Kaiser P, Thimme R, Schamel WW, Schwarz K, Feske S, Ehl S. Fuchs S, et al. Among authors: ehl s. J Immunol. 2012 Feb 1;188(3):1523-33. doi: 10.4049/jimmunol.1102507. Epub 2011 Dec 21. J Immunol. 2012. PMID: 22190180 Free PMC article.
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.
Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S. Bryceson YT, et al. Among authors: ehl s. Blood. 2012 Mar 22;119(12):2754-63. doi: 10.1182/blood-2011-08-374199. Epub 2012 Jan 31. Blood. 2012. PMID: 22294731 Free article.
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.
Speckmann C, Neumann C, Borte S, la Marca G, Sass JO, Wiech E, Fisch P, Schwarz K, Buchholz B, Schlesier M, Felgentreff K, Grimbacher B, Santisteban I, Bali P, Hershfield MS, Ehl S. Speckmann C, et al. Among authors: ehl s. J Allergy Clin Immunol. 2012 Oct;130(4):991-4. doi: 10.1016/j.jaci.2012.04.004. Epub 2012 May 10. J Allergy Clin Immunol. 2012. PMID: 22578972 No abstract available.
257 results