Publications
2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug K,
Järvinen PM,
Salzer E,
Racek T,
Mönch S,
Garncarz W,
Gertz EM,
Schäffer AA,
Antonopoulos A,
Haslam SM,
Schieck L,
Puchałka J,
Diestelhorst J,
Appaswamy G,
Lescoeur B,
Giambruno R,
Bigenzahn JW,
Elling U,
Pfeifer D,
Conde CD,
Albert MH,
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.
Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.
2014
Inflammatory Bowel Disease With Lethal Disease Course Caused By A Nonsense Mutation in BIRC4 Encoding X-linked Inhibitor of Apoptosis Protein (XIAP).
Beşer OF,
Conde CD,
Kutlu T,
Cokuğraş FC,
Boztuğ K,
Erkan T.
J Pediatr Gastroenterol Nutr. 2014 Jul 11. [Epub ahead of print]
2014
Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3.
Ban SA,
Salzer E,
Eibl MM,
Linder A,
Geier CB,
Santos-Valente E,
Garncarz W,
Lion T,
Ott R,
Seelbach C,
Boztug K,
Wolf HM.
J Clin Immunol. 2014 Sep 10. [Epub ahead of print]
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)
