Publications
2014
Gene therapy for wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
Braun CJ,
Boztug K,
Paruzynski A,
Witzel M,
Schwarzer A,
Rothe M,
Modlich U,
Beier R,
Göhring G,
Steinemann D,
Fronza R,
Ball CR,
Haemmerle R,
Naundorf S,
Kühlcke K,
Rose M,
Fraser C,
Mathias L,
Ferrari R,
Abboud MR,
Al-Herz W,
Kondratenko I,
Maródi L,
Glimm H,
Schlegelberger B,
Schambach A,
Albert MH,
Schmidt M,
von Kalle C,
Klein C.
Sci Transl Med. 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280.
2013
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.
Boztug K,
Klein C.
Hematol Oncol Clin North Am. 2013 Feb; 27(1):43-60, vii.
2013
High-content cytometry and transcriptomic biomarker profiling of human B-cell activation.
Hennig C,
Ilginus C,
Boztug K,
Skokowa J,
Marodi L,
Szaflarska A,
Sass M,
Pignata C,
Kilic SS,
Caragol I,
Baumann U,
Klein C,
Welte K,
Hansen G.
J Allergy Clin Immunol. 2013 Sep 5.
2013
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C _.
Salzer E*,
Santos-Valente E*,
Klaver S,
Ban SA,
Emminger W,
Prengemann NK,
Garncarz W,
Müllauer L,
Kain R,
Boztug H,
Heitger A,
Arbeiter K,
Eitelberger F,
Seidel MG,
Holter W,
Pollak A,
Pickl WF,
Förster-Waldl E,
Boztug K.
Blood. 2013 April 18; 121(16). (*equal contributing authors)
2012
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
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.
Gastroenterology. 2012 Aug;143(2):347-55.
2012
A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency.
Santos-Valente E,
Reisli I,
Artaç H,
Ott R,
Sanal O,
Boztug K.
J Clin Immunol. 2013 Jan;33(1):127-33. doi: 10.1007/s10875-012-9775-z. Epub 2012 Sep 21.
2012
Combined immunodeficiency with life-threatening EBV-associatedlymphoproliferative disorder in patients lacking functional CD27.
Salzer E,
Daschkey S,
Choo S,
Gombert M,
Santos-Valente E,
Ginzel S,
Schwendinger M,
Haas OA,
Fritsch G,
Pickl WF,
Foerster-Waldl E,
Borkhardt A,
Boztug K*,
Bienemann K*,
Seidel MG*.
Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16. (*equal contributing authors)
2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B,
Antonopoulos A,
Murphy EJ,
Rahman FZ,
Sewell G,
Smith BN,
McCartney S,
Furman M,
Hall G,
Bloom SL,
Haslam SM,
Morris HR,
Boztug K,
Klein C,
Winchester B,
Pick E,
Linch DC,
Gale RE,
Smith AM,
Dell A,
Segal AW.
Glycobiology. 2011 Jul;21(7):914-24.
2011
Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia.
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.
J Pediatr. 2011 Nov 1.
