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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
The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.
Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A. Rezaei N, et al. Among authors: klein c. J Clin Immunol. 2007 Sep;27(5):525-33. doi: 10.1007/s10875-007-9106-y. Epub 2007 Jun 21. J Clin Immunol. 2007. PMID: 17587155
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.
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka 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. Kotlarz D, et al. Among authors: klein c. J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25. J Exp Med. 2013. PMID: 23440042 Free PMC article.
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. Boztug K, et al. Among authors: klein c. Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17. Nat Genet. 2014. PMID: 25129144 Free PMC article.
3,911 results