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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. Among authors: palmblad j. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
Carlsson G, van't Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, Trebińska A, Grzybowska E, Palmblad J, Dahl N, Nordenskjöld M, Fadeel B, Henter JI. Carlsson G, et al. Among authors: palmblad j. J Intern Med. 2008 Oct;264(4):388-400. doi: 10.1111/j.1365-2796.2008.01982.x. Epub 2008 May 29. J Intern Med. 2008. PMID: 18513342 Free article.
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjöld M, Palmblad J, Henter JI, Dahl N. Melin M, et al. Among authors: palmblad j. Biochem Biophys Res Commun. 2007 Feb 16;353(3):571-5. doi: 10.1016/j.bbrc.2006.12.086. Epub 2006 Dec 20. Biochem Biophys Res Commun. 2007. PMID: 17188649 Free PMC article.
Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells.
Carlsson G, Aprikyan AA, Tehranchi R, Dale DC, Porwit A, Hellström-Lindberg E, Palmblad J, Henter JI, Fadeel B. Carlsson G, et al. Among authors: palmblad j. Blood. 2004 May 1;103(9):3355-61. doi: 10.1182/blood-2003-04-1011. Epub 2004 Feb 5. Blood. 2004. PMID: 14764541 Free article.
316 results