학술논문
Identification of GFI1 mutations in adult patients with congenital neutropenia.
Document Type
Article
Author
Source
Subject
Language
ISSN
0939-5555
Abstract
In a recent review from the SCNIR European and North-American Branches, based on 650 patients with severe congenital neutropenia, I GFI1 i was recognized as a rare pathogenetic gene accounting for less than 6% of patients [[5]]. Since the first description of the pathogenic I GFI1 i germline variants in four patients with neutropenia and monocytosis, only rare cases of I GFI1 i -related neutropenias have been reported [[8]-[10]]. Dear Editor, Chronic neutropenia, defined as an absolute neutrophil count (ANC) < 1.8 × 10 SP 9 sp /L for more than 3 months, is a common cause of referral to adult hematologists [[1]]. [Extracted from the article]