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Comment
. 2009 Jan 1;360(1):3-5.
doi: 10.1056/NEJMp0806821.

The many causes of severe congenital neutropenia

David C Dale  1 , Daniel C Link
Affiliations
Comment

The many causes of severe congenital neutropenia

David C Dale et al. N Engl J Med. .
No abstract available

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Comment on

  • A syndrome with congenital neutropenia and mutations in G6PC3.
    Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. Boztug K, et al. N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. N Engl J Med. 2009. PMID: 19118303 Free PMC article.

References

    1. Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007;39:86–92. - PubMed
    1. Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317–22. - PubMed
    1. Rosenberg PS, Alter BP, Link DC, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008;140:210–3. - PMC - PubMed
    1. Köllner I, Sodeik B, Schreek S, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood. 2006;108:493–500. - PubMed
    1. Grenda DS, Murakami M, Ghatak J, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007;110:4179–87. - PMC - PubMed