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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.
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S. Jessen B, et al. Among authors: ehl s. Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12. Blood. 2013. PMID: 23403622 Free PMC article.
Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
Hackmann Y, Graham SC, Ehl S, Höning S, Lehmberg K, Aricò M, Owen DJ, Griffiths GM. Hackmann Y, et al. Among authors: ehl s. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4482-91. doi: 10.1073/pnas.1313474110. Epub 2013 Nov 5. Proc Natl Acad Sci U S A. 2013. PMID: 24194549 Free PMC article.
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.
Esmaeilzadeh H, Bemanian MH, Nabavi M, Arshi S, Fallahpour M, Fuchs I, zur Stadt U, Warnatz K, Ammann S, Ehl S, Lehmberg K, Rezaei N. Esmaeilzadeh H, et al. Among authors: ehl s. J Clin Immunol. 2015 Jan;35(1):22-5. doi: 10.1007/s10875-014-0119-z. Epub 2014 Dec 10. J Clin Immunol. 2015. PMID: 25491289
β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.
Ardeniz Ö, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerçeker B, Martin B, Fuchs I, Salzer U, İkincioğulları A, Güloğlu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K. Ardeniz Ö, et al. Among authors: ehl s. J Allergy Clin Immunol. 2015 Aug;136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19. J Allergy Clin Immunol. 2015. PMID: 25702838
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT. Bode SF, et al. Among authors: ehl s. Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28. Haematologica. 2015. PMID: 26022711 Free PMC article.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S. Ammann S, et al. Among authors: ehl s. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7. Blood. 2016. PMID: 26744459 Free PMC article.
260 results