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: rathinam c.
Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24.
Nat Genet. 2007.
PMID: 17187068