JAGN1 mutations in severe congenital neutropenia
- PMID: 33207009
- DOI: 10.1111/bjh.17135
JAGN1 mutations in severe congenital neutropenia
Comment on
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Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.Br J Haematol. 2021 Jan;192(1):200-211. doi: 10.1111/bjh.17137. Epub 2020 Nov 18. Br J Haematol. 2021. PMID: 33206996 Free PMC article.
References
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- Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl. 1956;45:1-78.
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- 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.
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- 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.
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- 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.
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- 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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