Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells

Severe congenital neutropenia (SCN) of autosomal recessive inheritance, also known as Kostmann disease, is characterised by a lack of neutrophils and a propensity for life‐threatening infections. Using whole‐exome sequencing, we identified homozygous JAGN1 mutations (p.Gly14Ser and p.Glu21Asp) in th...

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Detalles Bibliográficos
Autores principales: Khandagale, Avinash, Holmlund, Teresa, Entesarian, Miriam, Nilsson, Daniel, Kalwak, Krzysztof, Klaudel‐Dreszler, Maja, Carlsson, Göran, Henter, Jan‐Inge, Nordenskjöld, Magnus, Fadeel, Bengt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Haematopoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839451/
https://www.ncbi.nlm.nih.gov/pubmed/33206996
http://dx.doi.org/10.1111/bjh.17137

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