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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
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. Klein C, et al. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C. Boztug K, et al. Among authors: klein c. Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. Immunol Allergy Clin North Am. 2008. PMID: 18424332 Review.
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.
Novel genetic etiologies of severe congenital neutropenia.
Boztug K, Klein C. Boztug K, et al. Among authors: klein c. Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24. Curr Opin Immunol. 2009. PMID: 19782549 Review.
Stem-cell gene therapy for the Wiskott-Aldrich syndrome.
Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Díez IA, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange JS, von Kalle C, Klein C. Boztug K, et al. Among authors: klein c. N Engl J Med. 2010 Nov 11;363(20):1918-27. doi: 10.1056/NEJMoa1003548. N Engl J Med. 2010. PMID: 21067383 Free PMC article. Clinical Trial.
4,058 results