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Page 1
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: klein c. 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.
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. Boztug K, et al. Among authors: klein c. N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. N Engl J Med. 2009. PMID: 19118303 Free PMC article.
Neutropenia and primary immunodeficiency diseases.
Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Rezaei N, et al. Among authors: klein c. Int Rev Immunol. 2009;28(5):335-66. doi: 10.1080/08830180902995645. Int Rev Immunol. 2009. PMID: 19811314 Review.
The phenotype of human STK4 deficiency.
Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C. Abdollahpour H, et al. Among authors: klein c. Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31. Blood. 2012. PMID: 22294732 Free PMC article.
The German National Registry of Primary Immunodeficiencies (2012-2017).
El-Helou SM, Biegner AK, Bode S, Ehl SR, Heeg M, Maccari ME, Ritterbusch H, Speckmann C, Rusch S, Scheible R, Warnatz K, Atschekzei F, Beider R, Ernst D, Gerschmann S, Jablonka A, Mielke G, Schmidt RE, Schürmann G, Sogkas G, Baumann UH, Klemann C, Viemann D, von Bernuth H, Krüger R, Hanitsch LG, Scheibenbogen CM, Wittke K, Albert MH, Eichinger A, Hauck F, Klein C, Rack-Hoch A, Sollinger FM, Avila A, Borte M, Borte S, Fasshauer M, Hauenherm A, Kellner N, Müller AH, Ülzen A, Bader P, Bakhtiar S, Lee JY, Heß U, Schubert R, Wölke S, Zielen S, Ghosh S, Laws HJ, Neubert J, Oommen PT, Hönig M, Schulz A, Steinmann S, Schwarz K, Dückers G, Lamers B, Langemeyer V, Niehues T, Shai S, Graf D, Müglich C, Schmalzing MT, Schwaneck EC, Tony HP, Dirks J, Haase G, Liese JG, Morbach H, Foell D, Hellige A, Wittkowski H, Masjosthusmann K, Mohr M, Geberzahn L, Hedrich CM, Müller C, Rösen-Wolff A, Roesler J, Zimmermann A, Behrends U, Rieber N, Schauer U, Handgretinger R, Holzer U, Henes J, Kanz L, Boesecke C, Rockstroh JK, Schwarze-Zander C, Wasmuth JC, Dilloo D, Hülsmann B, Schönberger S, Schreiber S, Zeuner R, Ankermann T, von Bismarck P, Huppertz HI, Kaiser-Labusch P, Greil J, Jakoby D, Kulozi… See abstract for full author list ➔ El-Helou SM, et al. Among authors: klein c, klein a. Front Immunol. 2019 Jul 19;10:1272. doi: 10.3389/fimmu.2019.01272. eCollection 2019. Front Immunol. 2019. PMID: 31379802 Free PMC article.
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: klein c. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
4,058 results