Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients (Papadaki et al., 2002).
Based on the observation that mice deficient in Gfi1 are neutropenic (Karsunky et al., 2002), Person et al. (2003) screened 105 unrelated neutropenic probands without mutations in ELA2 (130130), 49 individuals with severe congenital neutropenia (SCN; 202700), and ... Based on the observation that mice deficient in Gfi1 are neutropenic (Karsunky et al., 2002), Person et al. (2003) screened 105 unrelated neutropenic probands without mutations in ELA2 (130130), 49 individuals with severe congenital neutropenia (SCN; 202700), and 56 individuals with NI-CINA for mutations in the GFI1 gene. They found alteration of the GFI1 coding sequence in 2 probands, one a 66-year-old woman with NI-CINA (600871.0001) and the other a 4-month-old boy with SCN (600871.0002).