Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

Mutations in the Sterile alpha motif domain containing 9 (SAMD9) gene have been described in patients with severe multisystem disorder, MIRAGE syndrome, but also in patients with bone marrow (BM) failure in the absence of other systemic symptoms. The role of hematopoietic stem cell transplantation (...

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Detalles Bibliográficos
Autores principales: Formankova, Renata, Kanderova, Veronika, Rackova, Marketa, Svaton, Michael, Brdicka, Tomas, Riha, Petr, Keslova, Petra, Mejstrikova, Ester, Zaliova, Marketa, Freiberger, Tomas, Grombirikova, Hana, Zemanova, Zuzana, Vlkova, Marcela, Fencl, Filip, Copova, Ivana, Bronsky, Jiri, Jabandziev, Petr, Sedlacek, Petr, Soukalova, Jana, Zapletal, Ondrej, Stary, Jan, Trka, Jan, Kalina, Tomas, Skvarova Kramarzova, Karolina, Hlavackova, Eva, Litzman, Jiri, Fronkova, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759462/
https://www.ncbi.nlm.nih.gov/pubmed/31620126
http://dx.doi.org/10.3389/fimmu.2019.02194

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