Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.
Khanna-Gupta A, Sun H, Zibello T, Lee HM, Dahl R, Boxer LA, Berliner N Blood 2007(10): 4181-90
[PubMed abstract].
2001
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.
Gombart AF, Shiohara M, Kwok SH, Agematsu K, Komiyama A, Koeffler HP Blood 2001(9): 2561-7
[PubMed abstract].
1999
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI J Exp Med 1999(11): 1847-52
[PubMed abstract].
