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Comment
. 2021 Jan;192(1):9-10.
doi: 10.1111/bjh.17135. Epub 2020 Nov 18.

JAGN1 mutations in severe congenital neutropenia

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Comment

JAGN1 mutations in severe congenital neutropenia

David H McDermott et al. Br J Haematol. 2021 Jan.
No abstract available

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References

    1. Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl. 1956;45:1-78.
    1. Donadieu J, Beaupain B, Fenneteau O, Bellanne-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179:557-74.
    1. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317-22.
    1. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007;39:86-92.
    1. Khandagale A, Holmlund T, Entesarian M, Nilsson D, Kalwak K, Klaudel-Dreszler M, et al. Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death program in myeloid cells. Br J Haematol .2021;192:200-211.

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