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PMID: 19118300 Published · ppublish English Comment Journal Article

The many causes of severe congenital neutropenia.

The New England journal of medicine ·Vol. 360 ·No. 1 ·2009-01-01 ·Pages 3-5

Dale DC, Link DC

Abstract

暂无摘要

MeSH Terms
Abnormalities, Multiple/genetics Adaptor Proteins, Signal Transducing Apoptosis/genetics Bone Marrow Examination Glucose-6-Phosphatase/genetics Glycogen Storage Disease Type I/genetics Heart Defects, Congenital/genetics Humans Leukocyte Elastase/genetics Mutation Neutropenia/congenital,genetics Proteins/genetics Syndrome Thrombocytopenia/genetics Urogenital Abnormalities/genetics
Chemicals
Adaptor Proteins, Signal Transducing HAX1 protein, human Proteins Glucose-6-Phosphatase Leukocyte Elastase
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Dale David C
University of Washington School of Medicine, Seattle, USA.
Link Daniel C
References (5)
5 references, click to expand
  1. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
    Nat Genet. 2007 Jan;39(1):86-92 PMID: 17187068
  2. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
    Blood. 2000 Oct 1;96(7):2317-22 PMID: 11001877
  3. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.
    Blood. 2006 Jul 15;108(2):493-500 PMID: 16551967
  4. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.
    Blood. 2007 Dec 15;110(13):4179-87 PMID: 17761833
  5. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
    Br J Haematol. 2008 Jan;140(2):210-3 PMID: 18028488
Article Info
Journal
The New England journal of medicine
Abbr.
N Engl J Med
ISSN
1533-4406
DOI
10.1056/NEJMp0806821
Published
2009-01-01
Pages
3-5
Language
English
Region
United States
NLM ID
0255562
PMCID
PMC4162527
Subset
IM
Grants
NIAID NIH HHS · R24 AI049393 · United States
Corrections
CommentOn
PMID: 19118303
External Links
PubMed source DOI: 10.1056/NEJMp0806821 PMC Full Text View journal details
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