Scientific Publications

  • 2014

  • Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam S, Ziesenitz L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Welte K, Brandes G, Sherkat R, van der Werff ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C.

    JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

    Nat Genet. 2014 Sep;46(9):1021-7.

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  • Wirnsberger G, Zwolanek F, Stadlmann J, Tortola L, Liu SW, Järvinen P, Dürnberger G, Kozieradzki I, Sarao R, De Martinos A, Boztug K, Mechtler K, Kuchler K, Klein C, Elling U, Penninger JM.

    Jagunal-homolog 1 is a critical regulator of neutrophil function in fungal host defense.

    Nat Genet. 2014 Sep;46(9):1028-33.

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  • Triot A*, Järvinen PM*, Arostegui JI, Kohistani N, Dapena Díaz JL, Racek T, Puchałka J, Gertz EM, Schäffer AA, Díaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sánchez de Toledo Codina J, Yagüe J, Unal E, Klein C.

    Inherited biallelic CSF3R mutations in severe congenital neutropenia.

    Blood. 2014 Jun 12;123(24):3811-7.

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  • Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D.

    Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

    J Clin Immunol. 2014 Apr;34(3):331-9.

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  • Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Modlich U, Beier R, Göhring G, Steinemann D, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud M, Al-Herz W, Kondratenko I, Marodi L, Glimm H, Schlegelberger B, Baum C, Albert MH, Schmidt M, von Kalle C, Klein C.

    Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.

    Sci Transl Med. 2014 Mar 12;6(227):227ra33.

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  • 2013

  • Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff Ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.

    A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45.

    N Engl J Med. 2013 Jun 5.

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  • Kotlarz D, Zietara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchalka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C

    Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.

    J Exp Med. 2013 Mar 11;210(3):433-43. Epub 2013 Feb 25.

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  • 2012

  • Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister ED, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho KL, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YK, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, Al-Herz W, Grimbacher B, Sauer M, Sykora KW, Koletzko S, Klein C

    Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

    Gastroenterology. 2012 Aug;143(2):347-55. Epub 2012 Apr 28.

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  • Wali Y, Beshlawi I, Fawaz N, Alkhayat A, Zalabany M, Elshinawy M, Al-Kindi S, Al-Rawas AH, Klein C

    Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving.

    Eur J Haematol. 2012 Sep;89(3):245-9.

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  • 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

    The phenotype of human STK4 deficiency.

    Blood. 2012 Apr 12;119(15):3450-7. Epub 2012 Jan 31.

     

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  • 2011

  • Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C

    Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

    J Pediatr. 2012 Apr;160(4):679-683.e2. Epub 2011 Nov 1.

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  • Avedillo Díez I, Zychlinski D, Coci EG, Galla M, Modlich U, Dewey RA, Schwarzer A, Maetzig T, Mpofu N, Jaeckel E, Boztug K, Baum C, Klein C, Schambach A

    Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy.

    Mol Pharm. 2011 Oct 3;8(5):1525-37. Epub 2011 Aug 31.

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  • 2010

  • Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schäffer AA, Diestelhorst J, Pfeifer D, Appaswamy G, Kehbel S, Simon T, Al Jefri A, Lanfermann H, Klein C

    HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.

    Am J Med Genet A. 2010 Dec;152A(12):3157-63.

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  • Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Avedillo Díez I, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange J, von Kalle C, Klein C. Gene therapy for Wiskott Aldrich Syndrome.  New Engl J Med 363:1918-27, 2010

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  • Niemeyer CM, Kang M, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Mehta P, Albert MH, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Stary J, von den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML. Germline CBL mutations cause developmental abnormalities and predispose to juvenlle myelomonocytic leukemia. Nature Genetics 42:794-800, 2010

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  • Meinhardt A, Burkhardt B, Zimmermann M, Borkhardt A, Kontny U, Klingebiel T, Berthold F, Janka-Schaub G, Klein C, Kabickova E, Klapper W, Attarbaschi A, Schrappe M, Reiter A. Phase II window study on rituximab in newly diagnosed pediatric mature B-cell Non-Hodgkin lymphoma and Burkitt leukemia. J Clin Oncol 28:3115-3121, 2010

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  • Westerberg LS, Meelu P, Babtista M, Adamovich DA, Cotta-de-Almeida V, See B, Rosen MK, Vandenberghe P, Thrasher AJ, Klein C, Alt FW, Snapper SB. Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.  J Exp Med 207:1145-1152, 2010

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  • Dahl D, Hahn A, Koenecke C, Heuft HG, Dammann E, Stadler M, Buchholz S, Krauter J, Eder M, Sykora KW, Klein C, Ganser A, Sauer M. Prolonged isolated red cell transfusion requirement after allogeneic blood stem cell transplantation: identification of patients at risk. Transfusion 50:649-55 2010

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  • 2009

    Engelhardt KR, Sean McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kütükçüler N, Camcıoğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ERB, Grimbacher B, Chatila T. Large Deletions and Point Mutations Involving DOCK8 in the Autosomal Recessive Form of the Hyper-IgE Syndrome. J Allerg Clin Immunol 124:1289-1302, 2009

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  • Glocker E, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Pero M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW,Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal A, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. Inflammatory Bowel Disease and Mutations Affecting the IL10 Receptor. New Engl J Med  361:2033-2045, 2009

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  • Denic S, Showqi S, Klein C, Takala M, Nagelkerke N, Agarwal MM. Prevalence, phenotype and inheritance of benign neutropenia in Arabs. BMC Blood Disorders 9:3, 2009

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  • Schwermann J, Rathinam C, Schubert M, Noyan F, Schumacher S, Koseky H, Kotlyarov A, Gaestel M*, Klein C*. MAPKAP kinase MK2 maintains self-renewal capacity of haematopoietic stem cells. EMBO J 28:1392-1406, 2009

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  • 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 M, Mönckemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. A syndrome with severe congenital neutropenia and mutations in G6PC3. New Engl J Med 360:32-43, 2009

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  • 2008

    Hegazy AN, Klein C. Ex vivo priming of CD4 T cells converts immunological tolerance into effective antitumor immunity in a murine model of acute lymphoblastic leukemia. Leukemia 22:2070-9, 2008

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  • Boztug K, Germeshausen M, Avedillo-Diez I, Gulacsy V, Diestelhorst J, Ballmaier M, Marodi L, Welte K, Chernyshova LI, Klein C. Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. Clin Genet 74:68-74, 2008

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  • Rathinam C, Lassmann H, Mengel M, Klein C.Transcription factor Gfi1 restricts B-cell mediated autoimmunity.  J Immunol 181:6222-9, 2008

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  • Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 111:4954-7,2008

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  • Templin C, Kotlarz D, Rathinam C, Rudolph C, Schätzlein S, Ramireddy K, Rudolph KL, Schlegelberger B, Klein C, Drexler H. Establishment of immortalized multipotent hematopoietic progenitor cell lines by retroviral-mediated gene transfer of beta-catenin. Exp Hematol 36:204-15, 2008

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  • Ghosh A, Wolenski M, Klein C, Welte K, Blazar BR, Sauer M. Cytotoxic T cells reactive to an immunodominant leukemia-associated antigen can be specifically primed and expanded by combining a specific priming Stepp with non specificlarge scale expansion. J Immunotherapy 31:121-131, 2008

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  • 2007

    Maecker B, Jack T, Zimmermann M, Abdul-Khaliq H, Burdelski M, Ehrich J, Fuchs A, Holder M, Hoppe B, Hoyer P, Karow A, Köpf S, Krämer U, Lang T, Laube GF, Lehnhardt A, Maas E, Müller-Wiefel DE, Netz H, Pohl M, Tönshoff B, Wallot M, Zimmering M, Welte K, Reiter A, Melter M, Offner G, Klein C. (2007) Posttransplant lymphoproliferative disorders (PTLD) after solid organ transplantation in children: CNS and/or bone marrow involvement are risk factors for poor survival. J Clin Oncol  25:4902-4908, 2007

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  • Nguyen DD, Cotta de Almeida V, Maillard MH, Mizoguchi E, Klein C, Fuss I, Nagler C, Mizoguchi A,Bhan A, Snapper SB. Lymphocyte dependent and Th2 cytokine associated colitis in mice deficient in Wiskott Aldrich Syndrome protein. Gastroenterology 133:188-97, 2007

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  • Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Aghamohammadi A,Sherka R, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A. The clinical, immunohematological and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 27:525-33, 2007

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  • Ju Z, Jiang H, Jaworski M, Rathinam C, Gompf A Klein C, Trumpp A, Rudolph KL.Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment. Nat Med 13:742-7, 2007

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  • Rathinam C and Klein C. Transcriptional repressor Gfi1 integrates cytokine receptor signals controlling B cell development. PlosONE 2:e306, 2007

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  • von Falck C, Maecker B, Schirg E, Boerner AR, Knapp WH, Klein C, Galanski M. Post Transplant Lymphoproliferative Disease in Paediatric Solid Organ Transplant Patients: A possible Role for [18F]-FDG-PET(/CT) during initial Staging and Therapy Monitoring. Eur J Radiol 63:427-435, 2007

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  • Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjöld M, Palmblad J, Henter JI, Dahl N. Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. BiochemBiophys Res Comm 353:571-5, 2007

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  • Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K

    HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

    Nat Genet. 2007 Jan;39(1):86-92. Epub 2006 Dec 24.

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  • Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C

    A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

    Nat Med. 2007 Jan;13(1):38-45. Epub 2006 Dec 31.

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  • Klein C, Nguyen D, Liu CH, Mizoguchi A, Bhan AK, Miki H, Takenawa T, Rosen FS, Alt FW, Mulligan RC, Snapper SB

    Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice.

    Blood. 2003 Mar 15;101(6):2159-66. Epub 2002 Nov 14.

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  • Perrine SP, Hermine O, Small T, Suarez F, O’Reilly R, Boulad F, Fingeroth J, Askin M, Levy A, Mentzer SJ, DiNicola M, Klein C, Horwitz S, Faller DV. A phase I/II trial of arginine butyrate and gancyclovir in patients with Epstein-Barr Virus-associated lymphoid malignancies. Blood 109:2571-8, 2007

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  • 2006

  • Dewey RA, Avedillo Díez I, Ballmaier M, Filipovich A, Greil J, Güngör T, Happel C, Maschan A, Noyan F, Pannicke U, Schwarz K, Snapper S, Welte K, Klein C

    Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.

    Exp Hematol. 2006 Sep;34(9):1161-9.

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  • Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C

    Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

    Blood. 2006 Jul 1;108(1):362-9. Epub 2006 Mar 14.

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  • 2005

  • Rathinam C, Geffers R, Yücel R, Buer J, Welte K, Möröy T, Klein C

    The transcriptional repressor Gfi1 controls STAT3-dependent dendritic cell development and function.

    Immunity. 2005 Jun;22(6):717-28.

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  • Snapper SB, Meelu P, Nguyen D, Stockton BM, Bozza P, Alt FW, Rosen FS, von Andrian UH, Klein C

    WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo.

    J Leukoc Biol. 2005 Jun;77(6):993-8. Epub 2005 Mar 17.

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  • 2003

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