Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE.
Armistead
Paul M
PM
Wieder
Eric
E
Akande
Olanike
O
Alatrash
Gheath
G
Quintanilla
Kathryn
K
Liang
Shoudan
S
Molldrem
Jeffrey
J
D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics*; D006098:Granulocytes / Q000276:immunology*; D006801:Humans; D007111:Immunity, Cellular; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000276:immunology; D010447:Peptide Hydrolases / Q000276:immunology*; D013602:T-Lymphocytes, Cytotoxic / Q000276:immunology; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; C498275:GFI1 protein, human; D014157:Transcription Factors; D010447:Peptide Hydrolases